You are using an outdated browser. Please upgrade your browser to improve your experience.

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETD5 on chromosome 3p25.3.
Mondo Term and Equivalent IDs
MONDO:0014336:  intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Orphanet:404440: 
UMLS:C3810406: