Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060802 )
Relationships
is a type of
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Genes Involved
Zebrafish Models