Concept information
Preferred term
Multiple system malformation syndrome
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 11p15 deletion syndrome
- 12p12.1 microdeletion syndrome
- 12q15 deletion syndrome (disorder)
- 12q24.31-q24.32 deletion syndrome
- 14q12 microdeletion syndrome (disorder)
- 15q14 microdeletion syndrome (disorder)
- 15q24 microdeletion
- 17q24.2 microdeletion syndrome (disorder)
- 5p partial monosomy syndrome
- 5q22.2 deletion syndrome
- 9q33.3q34.11 microdeletion syndrome
- Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome
- Autosomal dominant deafness with onychodystrophy syndrome
- Congenital generalized hypercontractile muscle stiffness syndrome
- Distal 15q deletion syndrome
- Distal deletion 14q
- Distal deletion 7q36
- Distal duplication 16q
- Distal monosomy 13q
- Distal monosomy 1q (disorder)
- Distal trisomy 16p
- Hypogonadism with anosmia
- Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)
- MARCH syndrome
- Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)
- Microphthalmia, microtia, foetal akinesia syndrome
- Monosomy 13q14 syndrome
- Monosomy 13q34
- Multiple malformation syndrome with unusual brain and/or neuromuscular findings
- NEK9-related lethal skeletal dysplasia
- Pancreatic agenesis, holoprosencephaly syndrome
- Ring chromosome 14 syndrome (disorder)
- Ring finger protein 13-related severe early-onset epileptic encephalopathy
- Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
- Severe myopia, generalized joint laxity, short stature syndrome
- Severe oculo-renal-cerebellar syndrome (disorder)
- Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
- Spina bifida and hypospadias syndrome (disorder)
- Stromme syndrome
- TBCK-related intellectual disability syndrome
- Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
- Timothy syndrome (disorder)
- VATER association
- Velocardiofacial syndrome
- Waardenburg's syndrome
- X-linked mental retardation syndrome, Christianson type
Associated morphology
Occurrence
Pathological process
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/82354003
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