Term Name: | autosomal recessive intellectual developmental disorder 43 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081207] ( DOID:0081207 ) |