Syndromic X-Linked Intellectual Disability 34
Disease ID: disease_node_13607
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| Dbxref | MIM:300967, ORDO:466791 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXS34, MRXSML, macrocephaly-intellectual disability-left ventricular non compaction syndrome, mental retardation, X-linked, syndromic 34, syndromic X-linked mental retardation Mircsof-Langouet type |
| Doid Label | syndromic X-linked intellectual disability 34 |
| Doid Description | A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. |
| Disease Node Id | disease_node_13607 |
| Doid Id | DOID_0060817 |
| Label | Syndromic X-Linked Intellectual Disability 34 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)