Associated morphology
label: مورفولوژی مرتبط @fa

Finding site
label: محل یافتن @fa

Is a
label: هست یک @fa

Occurrence
label: وقوع @fa

Pathological process
label: فرآیند پاتولوژیک @fa

Diaphragmatic hernia, short bowel, asplenia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: فتق دیافراگم، روده کوتاه، سندرم آسپلنی (اختلال) @fa

Melnick-Needles syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ملنیک نیدلز @fa

Oculo-palato-digital syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم دیجیتال Oculo Palato @fa

Hennekam lymphangiectasia-lymphoedema syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم لنف ادم لنفانژکتازی هنکام @fa

Winchester syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم وینچستر @fa

Congenital
type: Concept
preferred label: مادرزادی @fa

Ascher's syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم اشر @fa

Pathological developmental process
type: Concept
preferred label: فرآیند رشد پاتولوژیک @fa

Kabuki make-up syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم آرایش کابوکی @fa

X-linked mental retardation with marfanoid habitus syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: X مرتبط با عقب ماندگی ذهنی با سندرم مارفانوئید هاتوس (اختلال) @fa

Simpson-Golabi-Behmel syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم سیمپسون گلابی بهمل (اختلال) @fa

Morphologic abnormality
type: Concept
preferred label: ناهنجاری مورفولوژیک @fa

Fragile X syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم X شکننده @fa

Williams syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ویلیامز @fa

Multiple malformation syndrome with facial defects as major feature
type: Concept
Associated morphology: Morphologic abnormality
Finding site: Face
Is a: Multiple system malformation syndrome
Is a: 398302004
Occurrence: Congenital
Pathological process: Pathological developmental process
broader: Multiple system malformation syndrome
narrower: Kapur Toriello syndrome (disorder)
narrower: 8q22.1 microdeletion syndrome (disorder)
narrower: McDonough syndrome (disorder)
narrower: 2p13.2 microdeletion syndrome
narrower: Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)
narrower: Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
narrower: 3q27.3 microdeletion syndrome (disorder)
narrower: Microcephalic primordial dwarfism Dauber type
narrower: Arrhinia with choanal atresia and microphthalmia syndrome (disorder)
narrower: Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
narrower: Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)
narrower: Diencephalic mesencephalic junction dysplasia (disorder)
narrower: Blepharonasofacial malformation syndrome (disorder)
narrower: Neu-Laxova syndrome
narrower: Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
narrower: Hypomandibular faciocranial dysostosis (disorder)
narrower: Sonoda syndrome
narrower: 9q31.1q31.3 microdeletion syndrome
narrower: Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
narrower: German syndrome (disorder)
narrower: Roifman syndrome (disorder)
narrower: Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome
narrower: IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies )syndrome
narrower: Cleft palate with short stature and vertebral anomaly syndrome (disorder)
narrower: Holoprosencephaly and postaxial polydactyly syndrome (disorder)
narrower: Nijmegen breakage syndrome-like disorder (disorder)
narrower: Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
narrower: X-linked intellectual disability due to GRIA3 mutations
narrower: Shprintzen Goldberg craniosynostosis syndrome (disorder)
narrower: Simosa Penchaszadeh Bustos syndrome
narrower: Gingival fibromatosis with facial dysmorphism syndrome (disorder)
narrower: Wilson Turner syndrome (disorder)
narrower: BMRS - blepharophimosis, mental retardation syndrome
narrower: X-linked intellectual disability Siderius type (disorder)
narrower: Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
narrower: Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
narrower: Koolen De Vries syndrome (disorder)
narrower: Deafness and intellectual disability Martin Probst type syndrome (disorder)
narrower: Juberg Marsidi syndrome (disorder)
narrower: Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
narrower: Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
narrower: Frank-Ter Haar syndrome (disorder)
narrower: Cranio-facio-digito-genital syndrome
narrower: Hennekam lymphangiectasia-lymphoedema syndrome
narrower: Intellectual disability Wolff type
narrower: Teebi Shaltout syndrome
narrower: M-CM (Macrocephaly-capillary malformation)
narrower: Xylosyltransferase 1 congenital disorder of glycosylation
narrower: Mandibulofacial dysostosis, Guion-Almeida type
narrower: Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
narrower: SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
narrower: Van den Ende-Gupta syndrome (disorder)
narrower: Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)
narrower: Macrocephaly, short stature, paraplegia syndrome (disorder)
narrower: SOFT syndrome
narrower: Thakker Donnai syndrome
narrower: Oculomaxillofacial dysostosis (disorder)
narrower: Okamoto syndrome (disorder)
narrower: Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)
narrower: Ichthyosis cheek eyebrow syndrome (disorder)
narrower: Trisomy 17p (disorder)
narrower: MDP (mandibular hypoplasia, deafness, progeroid) syndrome
narrower: Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)
narrower: Oculo-palato-digital syndrome
narrower: Thin ribs, tubular bones, dysmorphism syndrome
narrower: Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
narrower: Short stature Brussels type (disorder)
narrower: BSG syndrome
narrower: Toriello Carey syndrome
narrower: Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)
narrower: Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
narrower: MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3

Facial dysmorphism, intellectual deficit, short stature and hearing loss
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بدشکلی صورت، نقص هوشی، کوتاهی قد و کم شنوایی @fa

M-CM (Macrocephaly-capillary malformation)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: M CM (ناهنجاری مویرگی ماکروسفالی) @fa

Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم مضاعف اتصال به پروتئین 2 متیل CpG (سیتوزین فسفات گوانین) @fa

Char syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم چار @fa

Solitary median maxillary central incisor syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ثنایای مرکزی مدین ماگزیلاری منفرد @fa

Mandibulofacial dysostosis, Guion-Almeida type
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسوستوز مندیبولوفسیال، نوع Guion Almeida @fa

Craniofrontonasal dysplasia (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی کرانیوفرونونازال (اختلال) @fa

Acromelic frontonasal dysplasia (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی پیش بینی آکروملیک (اختلال) @fa

McDonough syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم مک دونا (اختلال) @fa

Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: میکروسفالی همراه با ناهنجاری همجوشی ستون فقرات گردنی (اختلال) @fa

Delayed membranous cranial ossification (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: استخوانی شدن غشایی جمجمه با تاخیر (اختلال) @fa

Maxillonasal dysplasia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم دیسپلازی فک بالا (اختلال) @fa

Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کمپتوداکتیلی با انقباض مفصل و سندرم نقص اسکلتی صورت (اختلال) @fa

Sonoda syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم سونودا @fa

Cataract with aberrant oral frenula and growth delay syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: آب مروارید با فرنول نابجای دهان و سندرم تاخیر رشد (اختلال) @fa

Crane Heise syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کرین هایز (اختلال) @fa

Frontofacionasal dysplasia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم دیسپلازی فرونتوفاسیونازال (اختلال) @fa

Cranio-facio-digito-genital syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم تناسلی کرانیو فاسیو دیجیتال @fa

Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوتاهی قد با ناهنجاری های جمجمه صورت و سندرم هیپوپلازی تناسلی (اختلال) @fa

Holoprosencephaly and postaxial polydactyly syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هولوپروسسفالی و سندرم پلی داکتیلی پس محوری (اختلال) @fa

Hypospadias and intellectual disability syndrome Goldblatt type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هیپوسپادیاس و سندرم ناتوانی ذهنی نوع گلدبلات (اختلال) @fa

Ichthyosis cheek eyebrow syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ابروی گونه ایکتیوز (اختلال) @fa

Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ماکروسفالی همراه با پاراپلژی اسپاستیک و سندرم دیس‌مورفیسم (اختلال) @fa

Microcephaly with deafness and intellectual disability syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: میکروسفالی با ناشنوایی و سندرم ناتوانی ذهنی (اختلال) @fa

Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: تأخیر در گفتار و عدم تقارن صورت با استرابیسم و سندرم چین پوستی لاله گوش (اختلال) @fa

Shprintzen Goldberg omphalocele syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم امفالوسل (اختلال) Shprintzen Goldberg @fa

Deafness craniofacial syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ناشنوایی جمجمه و صورت (اختلال) @fa

Potter sequence cleft lip and palate cardiopathy syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کاردیوپاتی شکاف کام و لب توالی پاتر (اختلال) @fa

Trisomy 17p (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: تریزومی 17p (اختلال) @fa

Syndromic hypoplasia of orbital border (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هیپوپلازی سندرمی مرز اربیتال (اختلال) @fa

Koolen De Vries syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کولن دی وری (اختلال) @fa

Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم اسکلتی Cerebro oculo dento auriculo (اختلال) @fa

Goldberg Shprintzen megacolon syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم مگاکولون گلدبرگ اشپرینتزن (اختلال) @fa

Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هیدروسفالی، ناهنجاری قلبی، سندرم استخوان متراکم (اختلال) @fa

Blepharonasofacial malformation syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ناهنجاری بلفارونا و صورت (اختلال) @fa

Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بینی بیفید، آنومالی آنورکتال، سندرم ناهنجاری کلیوی (اختلال) @fa

Wolf Hirschhorn syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ولف هیرشهورن (اختلال) @fa

Craniocerebellocardiac dysplasia
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی کرانیوسربلوکاردی @fa

Ablepharon macrostomia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ماکروستومی آبلفارون (اختلال) @fa

Fried syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم فرید (اختلال) @fa

X-linked intellectual disability Seemanova type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی مرتبط با X نوع Seemanova (اختلال) @fa

Syndromic X-linked intellectual disability type 11 (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی مرتبط با سندرم X نوع 11 (اختلال) @fa

X-linked intellectual disability Siderius type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی مرتبط با X نوع سیدریوس (اختلال) @fa

X-linked intellectual disability Stoll type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی مرتبط با X نوع استول (اختلال) @fa

Pallister W syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم پالیستر W (اختلال) @fa

14q11.2 microdeletion syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ریز حذف 14q11.2 (اختلال) @fa

Shprintzen Goldberg craniosynostosis syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کرانیوسینوستوز (اختلال) Shprintzen Goldberg @fa

BSG syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم BSG @fa

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: X مرتبط با ناهنجاری دندی واکر با ناتوانی ذهنی، بیماری گانگلیون پایه و سندرم تشنج (اختلال) @fa

X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: X مرتبط با ناتوانی ذهنی و صرع با انقباض پیشرونده مفصلی و سندرم بدشکلی صورت (اختلال) @fa

X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: X مرتبط با ناتوانی ذهنی با هیپوگاماگلوبولینمی و سندرم زوال پیشرونده عصبی (اختلال) @fa

X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: X مرتبط با ناتوانی ذهنی و هیپوتونی با بدشکلی صورت و سندرم رفتار پرخاشگرانه (اختلال) @fa

Short stature Brussels type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوتاه قد نوع بروکسل (اختلال) @fa

Microcephalus cleft palate syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم شکاف کام میکروسفالی (اختلال) @fa

Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هیپرترمی بدخیم همراه با آرتروگریپوز و سندرم تورتیکولی (اختلال) @fa

McPherson Clemens syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم مک فرسون کلمنس @fa

Cleft palate with short stature and vertebral anomaly syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: شکاف کام با کوتاهی قد و سندرم ناهنجاری مهره ای (اختلال) @fa

16p11.2p12.2 microdeletion syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ریزحذف 16p11.2p12.2 (اختلال) @fa

2p15p16.1 microdeletion syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ریزحذف 2p15p16.1 (اختلال) @fa

8q22.1 microdeletion syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ریز حذف 8q22.1 (اختلال) @fa

Gingival fibromatosis with facial dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: فیبروماتوز لثه همراه با سندرم دیس‌مورفیسم صورت (اختلال) @fa

X-linked intellectual disability with plagiocephaly syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: X مرتبط با ناتوانی ذهنی با سندرم پلاژیوسفالی (اختلال) @fa

Wilson Turner syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ویلسون ترنر (اختلال) @fa

Van den Ende-Gupta syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ون دن انده گوپتا (اختلال) @fa

Temtamy syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم تمتامی @fa

Anophthalmia plus syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم آنوفتالمی پلاس (اختلال) @fa

Arrhinia with choanal atresia and microphthalmia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: آرینیا همراه با آترزی کوآنال و سندرم میکروفتالمیا (اختلال) @fa

Arthrogryposis multiplex congenita and whistling face syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: آرتروگریپوز چندگانه مادرزادی و سندرم صورت سوت دار (اختلال) @fa

Cerebro-facio-thoracic dysplasia (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی سینه مغزی فاسیو (اختلال) @fa

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کولوبوما، بیماری مادرزادی قلبی، درماتوز ایکتیوزیفرم، سندرم ناهنجاری گوش ناتوانی ذهنی (اختلال) @fa

Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: آترزی کوآنال، کم شنوایی، نقص قلبی، سندرم بدشکلی جمجمه-صورتی (اختلال) @fa

Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: انقباض با دیسپلازی اکتودرم و سندرم شکاف دهانی (اختلال) @fa

Craniofacial dyssynostosis syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم دیسینوستوز جمجمه صورت (اختلال) @fa

Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کرانیوسینوستوز با ناهنجاری دندی واکر و سندرم هیدروسفالی (اختلال) @fa

Craniosynostosis and intracranial calcification syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کرانیوسینوستوز و سندرم کلسیفیکاسیون داخل جمجمه (اختلال) @fa

Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: نقص ایمنی ترکیبی شدید، میکروسفالی، تاخیر رشد، حساسیت به سندرم پرتوهای یونیزان (اختلال) @fa

Cerebrooculonasal syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم سربروکولونازال (اختلال) @fa

Ehlers-Danlos syndrome musculocontractural type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: نوع انقباض عضلانی سندرم اهلرز دانلوس (اختلال) @fa

Fine Lubinsky syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم فاین لوبینسکی (اختلال) @fa

Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناشنوایی با دیسپلازی اسکلتی و سندرم گرانولوم لب (اختلال) @fa

Frank-Ter Haar syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم فرانک تر هار (اختلال) @fa

Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم آلپورت، ناتوانی ذهنی، هیپوپلازی میانی صورت، سندرم الیپتوسیتوز (اختلال) @fa

Hall Riggs syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم هال ریگز (اختلال) @fa

Al Gazali Aziz Salem syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم الغزالی عزیز سالم @fa

Short tarsus with absence of lower eyelashes syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: تارس کوتاه با عدم وجود سندرم مژه های پایین (اختلال) @fa

Deafness and intellectual disability Martin Probst type syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناشنوایی و ناتوانی ذهنی سندرم نوع مارتین پروبست (اختلال) @fa

Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: Dentinogenesis imperfecta، کوتاهی قد، کم شنوایی، سندرم ناتوانی ذهنی (اختلال) @fa

Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، صرع، سندرم بینی پیازی (اختلال) @fa

Ectodermal dysplasia with blindness syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی اکتودرم با سندرم کوری (اختلال) @fa

Hypertelorism with microtia and facial clefting syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هایپرتلوریسم همراه با میکروتیا و سندرم شکاف صورت (اختلال) @fa

Hypomandibular faciocranial dysostosis (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیزوستوز هیپو فکی جمجمه ای (اختلال) @fa

Juberg Marsidi syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم جوبرگ مارسیدی (اختلال) @fa

Puerto Rican infant hypotonia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم هیپوتونی نوزاد پورتوریکویی (اختلال) @fa

Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: میکروسفالی، هیپوگاماگلوبولینمی، سندرم ایمنی غیرطبیعی (اختلال) @fa

Lymphedema, atrial septal defect, facial changes syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: لنف ادم، نقص سپتوم دهلیزی، سندرم تغییرات صورت (اختلال) @fa

Isotretinoin embryopathy-like syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم شبه جنینی ایزوترتینوئین (اختلال) @fa

Kapur Toriello syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کاپور توریلو (اختلال) @fa

Macrocephaly, short stature, paraplegia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ماکروسفالی، کوتاهی قد، سندرم پاراپلژی (اختلال) @fa

Oculocerebrofacial syndrome Kaufman type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم چشمی مغز و صورت نوع کافمن (اختلال) @fa

Okamoto syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم اوکاموتو (اختلال) @fa

Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: استئواسکلروز، تاخیر رشد، سندرم کرانیوسینوستوز (اختلال) @fa

Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: رشد بیش از حد، ماکروسفالی، سندرم دیس‌مورفیسم صورت (اختلال) @fa

Severe X-linked intellectual disability Gustavson type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی مرتبط با X شدید نوع گوستاوسون (اختلال) @fa

Perlman syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم پرلمن (اختلال) @fa

Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: آژنز جسم پینه ای، ناتوانی ذهنی، کولوبوما، سندرم میکروگناتیا (اختلال) @fa

Agnathia, holoprosencephaly, situs inversus syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: آگناتیا، هولوپروسسفالی، سندرم وضعیت معکوس (اختلال) @fa

Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هیپوپلازی و کلوبوم غضروف آلار با سندرم تله کانتوس (اختلال) @fa

Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: فلج ارثی مادرزادی صورت با سندرم کم شنوایی متغیر (اختلال) @fa

Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، بدشکلی جمجمه ای، هیپوگنادیسم، سندرم دیابت (اختلال) @fa

Thickened earlobe with conductive deafness syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ضخیم شدن لاله گوش همراه با سندرم ناشنوایی هدایتی (اختلال) @fa

Toriello Carey syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم توریلو کری @fa

Microbrachycephaly, ptosis, cleft lip syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: میکروبراکی سفالی، پتوز، سندرم شکاف لب (اختلال) @fa

Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی استئودیسپلاستیک میکروسفالیک نوع ساول ویلسون (اختلال) @fa

N syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم N (اختلال) @fa

Polyvalvular heart disease syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم بیماری قلبی چند دریچه ای (اختلال) @fa

Ramos Arroyo syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم راموس آرویو (اختلال) @fa

Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: پتوز، محدودیت حرکت چشم فوقانی، عدم وجود سندرم اشکی پونکتوم (اختلال) @fa

Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیابت دائمی نوزاد با سندرم آژنزیس مخچه (اختلال) @fa

Kleefstra syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کلفسترا (اختلال) @fa

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هیپوسمی، هیپوپلازی بینی و چشم، سندرم هیپوگنادیسم هیپوگنادوتروپ (اختلال) @fa

Intellectual disability Buenos Aires type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی نوع بوئنوس آیرس (اختلال) @fa

Weaver Williams syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ویور ویلیامز (اختلال) @fa

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوتاهی قد، صورت منحصر به فرد، هیپوپلازی مینا، سفتی پیشرونده مفصل، سندرم صدای بلند (اختلال) @fa

Cataract, congenital heart disease, neural tube defect syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: آب مروارید، بیماری مادرزادی قلبی، سندرم نقص لوله عصبی (اختلال) @fa

Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، آب مروارید، پینای کلسیفیه، سندرم میوپاتی (اختلال) @fa

X-linked intellectual disability Nascimento type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: نوع ناسیمنتو ناتوانی ذهنی مرتبط با X (اختلال) @fa

Cleft lip retinopathy syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم رتینوپاتی شکاف لب (اختلال) @fa

Cyprus facial neuromusculoskeletal syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم اسکلتی عصبی عضلانی صورت قبرس (اختلال) @fa

Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: صرع، میکروسفالی، سندرم دیسپلازی اسکلتی (اختلال) @fa

German syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم آلمانی (اختلال) @fa

Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بدشکلی، کوتاهی قد، ناشنوایی، سندرم شبه هرمافرودیتیسم @fa

Marfanoid habitus with autosomal recessive intellectual disability syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: عادت مارفانوئید با سندرم ناتوانی ذهنی اتوزومال مغلوب @fa

Stimmler syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم استیملر @fa

Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: میکروسفالی، هیپوگنادیسم هیپرگنادوتروپیک، سندرم کوتاه قد (اختلال) @fa

Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بدشکلی صورت، ماکروسفالی، نزدیک بینی، سندرم ناهنجاری دندی واکر (اختلال) @fa

SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: اسکال (ناهنجاری اسکلتی، کوتیس لاگزا، کرانیوستنوز، دستگاه تناسلی مبهم، عقب ماندگی، ناهنجاری صورت) @fa

Dysmorphism, cleft palate, loose skin syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بدشکلی، شکاف کام، سندرم شل پوست @fa

Facial dysmorphism, conductive hearing loss, heart defect syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بدشکلی صورت، کاهش شنوایی هدایتی، سندرم نقص قلبی @fa

Bone fragillity, contractures, arterial rupture, deafness syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: شکنندگی استخوان، انقباضات، پارگی شریان، سندرم ناشنوایی @fa

Craniofaciofrontodigital syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کرانیوفاسیو پیشانی دیجیتال (اختلال) @fa

Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، چاقی، ناهنجاری مغزی، سندرم بدشکلی صورت @fa

Cerebrofacioarticular syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم سربروفاسیو آرتیکولار (اختلال) @fa

Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناهنجاری قوس آئورت، بدشکلی صورت، سندرم ناتوانی ذهنی (اختلال) @fa

Velofacioskeletal syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ولوفاسیو اسکلتی (اختلال) @fa

Wiedemann Steiner syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم Wiedemann Steiner @fa

White forelock with malformations syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: پیشانی سفید با سندرم ناهنجاری ها @fa

IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies )syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم IHPRF (هیپوتونی نوزادی، عقب ماندگی روانی حرکتی، رخساره های مشخصه) @fa

Intellectual disability Wolff type
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی نوع ولف @fa

Macrocephaly and developmental delay syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ماکروسفالی و سندرم تاخیر رشد @fa

Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم شبه لارسن بتا 1،3 گلوکورونیل ترانسفراز نوع 3 @fa

Malan overgrowth syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم رشد بیش از حد مالان @fa

Oculomaxillofacial dysostosis (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیزوستوز چشمی فک و صورت (اختلال) @fa

Neonatal Marfan syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم مارفان نوزادی @fa

Otofaciocervical syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم Otofaciocervical @fa

Cryptorchidism, arachnodactyly, intellectual disability syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کریپتورکیدیسم، آراکنوداکتیلی، سندرم ناتوانی ذهنی @fa

King Denborough syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کینگ دنبرو @fa

Bird-headed dwarfism Montreal type
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوتوله سر پرنده نوع مونترال @fa

Nijmegen breakage syndrome-like disorder (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: اختلال مانند سندرم شکستگی نایمگن (اختلال) @fa

Helsmoortel-van der Aa syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم Helsmoortel van der Aa @fa

Diencephalic mesencephalic junction dysplasia (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی پیوند مزانسفالیک (اختلال) @fa

Tatton Brown Rahman overgrowth syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم رشد بیش از حد تاتون براون رحمان @fa

Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوریورتینوپاتی اتوزومال مغلوب و سندرم میکروسفالی (اختلال) @fa

Microcephalic primordial dwarfism Alazami type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوتوله اولیه میکروسفالی نوع الازامی (اختلال) @fa

Microcephalic primordial dwarfism Dauber type
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوتوله اولیه میکروسفالی از نوع داوبر @fa

Roifman Chitayat syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم رویفمن چیتایات @fa

Prader-Willi-like syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم پرادر ویلی دوست دارد @fa

3q27.3 microdeletion syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ریزحذف 3q27.3 (اختلال) @fa

Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بدشکلی صورت، دررفتگی عدسی، ناهنجاری های بخش قدامی، سندرم بلب فیلترینگ خود به خود (اختلال) @fa

Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، تشنج، ماکروسفالی، سندرم چاقی (اختلال) @fa

Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی های حرکتی و ذهنی شدید، ناشنوایی حسی عصبی، سندرم دیستونی (اختلال) @fa

MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: MCAHS (ناهنجاری های مادرزادی متعدد، هیپوتونی، سندرم تشنج) نوع 3 @fa

2p13.2 microdeletion syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ریزحذف 2p13.2 @fa

5p13 microduplication syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم میکرودوپلیکاسیون 5p13 (اختلال) @fa

Trisomy 11p15.4
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: تریزومی 11p15.4 @fa

Familial omphalocele syndrome with facial dysmorphism (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم امفالوسل خانوادگی با بدشکلی صورت (اختلال) @fa

Kagami Ogata syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم کاگامی اوگاتا @fa

Pilotto syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم پیلوتو @fa

Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: میکروسفالی، کوتاهی قد، ناتوانی ذهنی، سندرم بدشکلی صورت (اختلال) @fa

Intellectual disability, short stature, hypertelorism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، کوتاهی قد، سندرم هایپرتلوریسم @fa

Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: فیبروز کبدی، کیست کلیه، سندرم ناتوانی ذهنی (اختلال) @fa

Typus Edinburgensis
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: نوع Edinburgensis @fa

Teebi Shaltout syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم تیبی شلتوت @fa

Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: لوکوآنسفالوپاتی اتوزومال مغلوب، سکته مغزی ایسکمیک، سندرم رتینیت پیگمانتوزا (اختلال) @fa

15q overgrowth syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم رشد بیش از حد 15q @fa

Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: اختلال طیف اوتیسم ناشی از فعال کننده AUTS2 رونویسی و کمبود تنظیم کننده رشد @fa

FILS syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم FILS @fa

Thakker Donnai syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم Thakker Donnai @fa

Spondyloepimetaphyseal dysplasia Genevieve type (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی اسپوندیلو اپی متافیزال نوع ژنویو (اختلال) @fa

Roifman syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم رویفمن (اختلال) @fa

MDP (mandibular hypoplasia, deafness, progeroid) syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم MDP (هیپوپلازی فک پایین، ناشنوایی، پروژروئید). @fa

Xylosyltransferase 1 congenital disorder of glycosylation
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: اختلال مادرزادی گلیکوزیلاسیون زایلوزیل ترانسفراز 1 @fa

Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی شدید، کوتاهی قد، ناهنجاری های رفتاری، سندرم بدشکلی صورت @fa

9q31.1q31.3 microdeletion syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم حذف ریز 9q31.1q31.3 @fa

14q24.1q24.3 microdeletion syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم حذف ریز 14q24.1q24.3 @fa

13q12.3 microdeletion syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ریز حذف 13q12.3 (اختلال) @fa

Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: انسفالوپاتی صرعی با شروع زودرس، نابینایی قشر مغز، ناتوانی ذهنی، سندرم بدشکلی صورت (اختلال) @fa

Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی شدید، زبان ضعیف، استرابیسم، چهره دراز، سندرم انگشتان بلند (اختلال) @fa

Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، مشکلات تغذیه، تاخیر رشد، سندرم میکروسفالی @fa

THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: THO کمپلکس 6 مربوط به تأخیر رشد، میکروسفالی، سندرم دیس‌مورفیسم صورت @fa

Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسوستوز مندیبولوفسیال، ماکروبلفارون، سندرم ماکروستومی @fa

Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، بدشکلی جمجمه-صورتی، سندرم کریپتورکیدیسم @fa

Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، هیپوتونی، براکیسفالی، تنگی پیلور، سندرم کریپتورکیدیسم (اختلال) @fa

Craniofacial dysplasia osteopenia syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم استئوپنی دیسپلازی جمجمه صورت @fa

SOFT syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم SOFT @fa

Multiple congenital anomalies, hypotonia, seizures syndrome type 2
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناهنجاری های مادرزادی متعدد، هیپوتونی، سندرم تشنج نوع 2 @fa

Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: جنبه پروژروئید و مارفانوئید، سندرم لیپودیستروفی (اختلال) @fa

Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: هیپوگنادیسم هیپوگنادوتروپیک، میکروسفالی شدید، کاهش شنوایی حسی عصبی، سندرم دیس‌مورفیسم (اختلال) @fa

Simosa Penchaszadeh Bustos syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم سیموزا پنچاس زاده بوستوس @fa

AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: موتیف اتصال DNA هوک AT حاوی 1 ناتوانی ذهنی مرتبط، آپنه انسدادی خواب، سندرم بدشکلی خفیف @fa

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، چاقی، پروگناتیسم، سندرم ناهنجاری های چشمی و پوستی (اختلال) @fa

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: کوتاهی قد، آترزی کانال شنوایی، هیپوپلازی فک پایین، سندرم ناهنجاری های اسکلتی @fa

Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، تأخیر شدید گفتار، سندرم بدشکلی خفیف (اختلال) @fa

Temple syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم معبد (اختلال) @fa

Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بیماری خودایمنی چند سیستمی سندرومی ناشی از خارش کمبود پروتئین لیگاز یوبیکوئیتین E3 (اختلال) @fa

Lethal polymalformative syndrome Boissel type
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم پلی مالفورماتیو کشنده نوع بوسل @fa

Neu-Laxova syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم Neu Laxova @fa

Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی شدید، سندرم دیپلژی اسپاستیک پیشرونده (اختلال) @fa

Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، سندرم بدشکلی صورت ناشی از دامنه SET حاوی 5 هاپلون ناکافی (اختلال) @fa

Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی، درشت چهره، ماکروسفالی، سندرم هیپوتروفی مخچه @fa

Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دیسپلازی اسپوندیلومتافیزیال، ساعد خمیده، سندرم دیس‌مورفیسم صورت @fa

Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: بدشکلی صورت، بی اشتهایی، کاشکسی، سندرم ناهنجاری های چشم و پوست (اختلال) @fa

Thin ribs, tubular bones, dysmorphism syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: دنده های نازک، استخوان های لوله ای، سندرم دیسمورفیسم @fa

Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: میکروبراکی سفالی شدید، ناتوانی ذهنی، سندرم فلج مغزی آتتوئید @fa

Macrocephaly, intellectual disability, autism syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ماکروسفالی، ناتوانی ذهنی، سندرم اوتیسم (اختلال) @fa

Stickler syndrome non-ocular type
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم استیکلر از نوع غیر چشمی @fa

RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم RIDDLE (حساسیت به پرتو، نقص ایمنی، ویژگی های بدشکلی، مشکلات یادگیری) @fa

Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: اختلال شبیه سندرم نونان با لوسمی میلومونوسیتی نوجوانان @fa

Ankyloblepharon filiforme adnatum with cleft palate syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: Ankyloblepharon filiforme adnatum با سندرم شکاف کام @fa

X-linked intellectual disability due to GRIA3 mutations
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناتوانی ذهنی مرتبط با X به دلیل جهش GRIA3 @fa

Curatolo Cilio Pessagno syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم Curatolo Cilio Pessagno @fa

Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: ناهنجاری های مادرزادی متعدد، هیپوتونی، سندرم تشنج (اختلال) @fa

Aneurysm osteoarthritis syndrome (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم استئوآرتریت آنوریسمی (اختلال) @fa

Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: تأخیر رشد، سندرم بدشکلی صورت به دلیل کمبود زیرواحد 13 کمپلکس واسطه (اختلال) @fa

21q22.11q22.12 microdeletion syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم حذف ریز 21q22.11q22.12 @fa

BMRS - blepharophimosis, mental retardation syndrome
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: BMRS بلفاروفیموز، سندرم عقب ماندگی ذهنی @fa

Multiple system malformation syndrome
type: Concept
narrower: Multiple malformation syndrome with facial defects as major feature
preferred label: سندرم ناهنجاری چندگانه سیستم @fa

Frontonasal dysplasia sequence
type: Concept
Is a: Multiple malformation syndrome with facial defects as major feature
broader: Multiple malformation syndrome with facial defects as major feature
preferred label: توالی دیسپلازی پیش بینی @fa

Face
type: Concept
preferred label: صورت @fa