Term Name: autosomal dominant intellectual developmental disorder 46
Synonyms: autosomal dominant mental retardation 46
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14.
Ontology: Human Disease [DOID:0080237]   ( DOID:0080237 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder