Basilicata-Akhtar Syndrome
Disease ID: disease_node_13593
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| Dbxref | MIM:301032 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXS36, X-linked syndromic mental retardation 36, X-linked syndromic mental retardation Basilicata-Akhtar type |
| Doid Label | Basilicata-Akhtar syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. |
| Disease Node Id | disease_node_13593 |
| Doid Id | DOID_0111838 |
| Label | Basilicata-Akhtar Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)