MeSH Browser

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
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 MeSH Supplementary Concept Data 2024