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Preferred Name

syndromic X-linked intellectual disability Snyder type
Synonyms

spermine synthase deficiency

Snyder-Robinson syndrome
Definitions

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.
ID

http://purl.obolibrary.org/obo/DOID_0060802
Obsolete

true
database_cross_reference

ICD10CM:Q87.8

OMIM:309583

GARD:5615

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.
has exact synonym

Snyder-Robinson syndrome

Snyder-Robinson mental retardation syndrome

mental retardation, X-linked, Snyder-Robinson type

SRS

spermine synthase deficiency
has material basis in

http://purl.obolibrary.org/obo/GENO_0000149
has_obo_namespace

disease_ontology
id

DOID:0060802
in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

syndromic X-linked intellectual disability Snyder type
notation

DOID:0060802
owl:deprecated

true
prefLabel

syndromic X-linked intellectual disability Snyder type
subClassOf

http://purl.obolibrary.org/obo/DOID_0060309

http://purl.obolibrary.org/obo/DOID_0080012
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