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Snyder Robinson syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Snyder Robinson syndrome
Unique ID
C536678
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536678
Entry Term(s)
Mental Retardation, X-Linked, Snyder-Robinson Type
Snyder-Robinson Mental Retardation Syndrome
Snyder-Robinson Syndrome
X-linked mental retardation Snyder - Robinson type
Registry Number
0
Heading Mapped to
*Mental Retardation, X-Linked
Frequency
24
Note
An X-linked recessive intellectual disability syndrome that also affects other body structures. Additional characteristics include facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthic speech (DYSARTHRIA), narrow or CLEFT PALATE, diminished muscle mass, OSTEOPOROSIS: KYPHOSIS, long great toes, short stature, PECTUS CARINATUM, and MYOPIA. Mutations in the SMS gene have been identified. OMIM: 309583
Date of Entry
2010/08/25
Revision Date
2015/11/10
Snyder Robinson syndrome Preferred
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