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Metadata
ID DOID:0060802
Name syndromic X-linked intellectual disability Snyder type
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.
https://www.ncbi.nlm.nih.gov/pubmed/14508504, https://www.ncbi.nlm.nih.gov/pubmed/23696453
Xrefs

GARD:5615

ICD10CM:Q87.8

OMIM:309583

ORDO:3063

Synonyms

mental retardation, X-linked, Snyder-Robinson type [EXACT]

Snyder-Robinson mental retardation syndrome [EXACT]

Snyder-Robinson syndrome [EXACT]

spermine synthase deficiency [EXACT]

SRS [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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