multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Findings

No curated finding names multiple congenital anomalies/dysmorphic syndrome-intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• multiple congenital anomalies/dysmorphic syndrome

Narrower terms (338)

• acrocallosal syndrome
• acrofacial dysostosis Rodriguez type
• acrofacial dysostosis, Catania type
• agnathia-otocephaly complex
• anencephaly 1
• aniridia-renal agenesis-psychomotor retardation syndrome
• aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Biemond syndrome type 2
• bird headed-dwarfism, Montreal type
• blepharonasofacial malformation syndrome
• Bonnemann-Meinecke-Reich syndrome
• Bowen-Conradi syndrome
• brachydactyly-nystagmus-cerebellar ataxia syndrome
• C syndrome
• camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
• cardiocranial syndrome, Pfeiffer type
• Cohen syndrome
• cortical blindness-intellectual disability-polydactyly syndrome

Resolves to: multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Also called

MCA/MRmultiple congenital anomalies-intellectual disability with or without dysmorphism