autosomal dominant intellectual developmental disorder 40 (DOID:0070070)
Alliance: disease page
Synonyms: autosomal dominant mental retardation 40; autosomal dominant non-syndromic intellectual disability 40; MRD40
Alt IDs: OMIM:616579
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.