Term Name: autosomal dominant intellectual developmental disorder 40
Synonyms: autosomal dominant mental retardation 40, autosomal dominant non-syndromic intellectual disability 40, MRD40
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
Ontology: Human Disease [DOID:0070070]   ( DOID:0070070 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder