autosomal dominant intellectual developmental disorder 78 Disease Ontology Browser

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autosomal dominant intellectual developmental disorder 78 (DOID:0081467)
Alliance: disease page
Alt IDs: OMIM:621627
Definition: An autosomal dominant intellectual developmental disorder that is characterized by neurodevelopmental abnormalities including intellectual disability, language and motor delays, autism spectrum disorder, and epilepsy or seizures and that has_material_basis_in heterozygous mutation in the INTS6 gene on chromosome 13q14.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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