Term Name: | autosomal dominant intellectual developmental disorder 68 |
---|---|
Synonyms: | |
Definition: | An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0061041] ( DOID:0061041 ) |