OBO ID: DOID:0060802
Term Name: syndromic X-linked intellectual disability Snyder type Search Ontology:
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 )
OTHER syndromic X-linked intellectual disability Snyder type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMS Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type 309583
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None