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DOID:0060802 - syndromic X-linked intellectual disability Snyder type
Disease Ontology Definition: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.
Synonyms: SRS, Snyder-Robinson mental retardation syndrome, Snyder-Robinson syndrome, mental retardation, X-linked, Snyder-Robinson type, spermine synthase deficiency,
Echinobase Genes
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| MIM:309583 - mental retardation, x-linked, syndromic, snyder-robinson type; mrxssr |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee