syndromic X-linked intellectual disability Snyder type

Term ID

DOID:0060802

Synonyms

• mental retardation, X-linked, Snyder-Robinson type
• Snyder-Robinson mental retardation syndrome
• Snyder-Robinson syndrome
• spermine synthase deficiency
• SRS

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. (2)

References

• GARD:5615
• ICD10CM:Q87.8
• MIM:309583
• ORDO:3063

Ontology

Human Disease   ( DOID:0060802 )