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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070053
OMIM:615761
Orphanet:404440
UMLS:C3810406
MONDO:0014336
High level summary of knowledge for a disease, including descriptions and datasource references.