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syndromic X-linked intellectual disability Snyder type

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.
Uniprot Description Characterized by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Transmission is X-linked recessive.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0010664:  syndromic X-linked intellectual disability Snyder type
GARD:0005615: 
MESH:C536678: 
Orphanet:3063: 
SCTID:702416008: 
UMLS:C0796160: