X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance
Disease ID: disease_node_13601
Connections displayed (default: 10).
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| Dbxref | MIM:300486 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Doid Label | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance |
| Doid Description | A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. |
| Disease Node Id | disease_node_13601 |
| Doid Id | DOID_0080311 |
| Label | X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)