Term Name: autosomal dominant intellectual developmental disorder 70
Synonyms:
Definition: An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.
Ontology: Human Disease [DOID:0061043]   ( DOID:0061043 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder