Autosomal Recessive Intellectual Developmental Disorder 74
Disease ID: disease_node_16395
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| Dbxref | MIM:617169 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Doid Label | autosomal recessive intellectual developmental disorder 74 |
| Doid Description | An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. |
| Disease Node Id | disease_node_16395 |
| Doid Id | DOID_0081218 |
| Label | Autosomal Recessive Intellectual Developmental Disorder 74 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)