syndromic X-linked intellectual disability Snyder type

Summary

DOID:0060802 - syndromic X-linked intellectual disability Snyder type

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sms

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010664 - syndromic X-linked intellectual disability Snyder type

MONDO:0010664 - syndromic X-linked intellectual disability Snyder type

MIM:

MIM:309583 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

MIM:309583 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): syndromic X-linked intellectual disability (is_a), X-linked recessive disease (is_a)