Tonne-Kalscheuer Syndrome
Disease ID: disease_node_13595
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| Dbxref | MIM:300978 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRX61, TOKAS, X-linked mental retardation 61, intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia |
| Doid Label | Tonne-Kalscheuer syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. |
| Disease Node Id | disease_node_13595 |
| Doid Id | DOID_0112042 |
| Label | Tonne-Kalscheuer Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)