| Metadata | |
|---|---|
| ID | DOID:0081207 |
| Name | autosomal recessive intellectual developmental disorder 43 |
| 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. https://pubmed.ncbi.nlm.nih.gov/34599609/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |