Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type
Disease ID: disease_node_13606
Connections displayed (default: 10).
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| Dbxref | MIM:300861 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXSCS, X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance, mental retardation, X-linked, syndromic, Chudley-Schwartz type |
| Doid Label | syndromic X-linked intellectual disability Chudley-Schwartz type |
| Doid Description | A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. |
| Has Symptom | SYMP_0000363 |
| Disease Node Id | disease_node_13606 |
| Doid Id | DOID_0060819 |
| Label | Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type |
- Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)