Syndromic X-Linked Intellectual Disability Snyder Type
Disease ID: disease_node_13620
Connections displayed (default: 10).
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| Dbxref | GARD:5615, ICD10CM:Q87.8, MIM:309583, ORDO:3063 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | SRS, Snyder-Robinson mental retardation syndrome, Snyder-Robinson syndrome, mental retardation, X-linked, Snyder-Robinson type, spermine synthase deficiency |
| Doid Label | syndromic X-linked intellectual disability Snyder type |
| Doid Description | A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13620 |
| Doid Id | DOID_0060802 |
| Label | Syndromic X-Linked Intellectual Disability Snyder Type |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)