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intellectual disability, autosomal dominant 13

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31.
Mondo Term and Equivalent IDs
MONDO:0013805:  intellectual disability, autosomal dominant 13
UMLS:C3281202: