Stocco Dos Santos Type X-Linked Intellectual Disability
Disease ID: disease_node_13591
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| Dbxref | MIM:300434, ORDO:85288 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | SDSX, Stocco dos Santos X-linked mental retardation syndrome |
| Doid Label | Stocco Dos Santos type X-linked intellectual disability |
| Doid Description | A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_13591 |
| Doid Id | DOID_0112126 |
| Label | Stocco Dos Santos Type X-Linked Intellectual Disability |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)