Term Name: autosomal dominant intellectual developmental disorder 78
Synonyms:
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.
Ontology: Human Disease [DOID:0081467]   ( DOID:0081467 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder