Autosomal Recessive Intellectual Developmental Disorder 43
Disease ID: disease_node_16406
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| Dbxref | MIM:615817 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Doid Label | autosomal recessive intellectual developmental disorder 43 |
| Doid Description | 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. |
| Disease Node Id | disease_node_16406 |
| Doid Id | DOID_0081207 |
| Label | Autosomal Recessive Intellectual Developmental Disorder 43 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)