syndromic X-linked intellectual disability Snyder type (DOID:0060802)
Alliance: disease page
Synonyms: mental retardation, X-linked, Snyder-Robinson type; Snyder-Robinson mental retardation syndrome; Snyder-Robinson syndrome; spermine synthase deficiency; SRS
Alt IDs: OMIM:309583, ICD10CM:Q87.8, ORDO:3063
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.