Details of Disease | DrugMAP

General Information of Disease (ID: DIS4KGBW)

Disease Name	Intellectual disability-strabismus syndrome
Synonyms	intellectual disability, autosomal recessive 36; MRT36; mental retardation, autosomal recessive 36; mental retardation, autosomal recessive type 36; intellectual disability, autosomal recessive type 36; neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISQ1B1S: Disorder of visual system DIS4KGBW: Intellectual disability-strabismus syndrome
Disease Identifiers	MONDO ID MONDO_0014119 UMLS CUI C4750838 OMIM ID 615286 MedGen ID 1665943 Orphanet ID 363528 SNOMED CT ID 773405004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAT3	OTMEU45R	Strong	Autosomal recessive	[1]
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References

1	Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet. 2013 Jul;50(7):425-30. doi: 10.1136/jmedgenet-2012-101378. Epub 2013 Apr 25.