autosomal recessive intellectual developmental disorder 43 (DOID:0081207)
Alliance: disease page
Alt IDs: OMIM:615817
Definition: An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.