Details of Disease | DrugMAP

General Information of Disease (ID: DISXZ0HQ)

Disease Name	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Disease Hierarchy	DISOJJ2D: Movement disorder DISXZ0HQ: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Disease Identifiers	MONDO ID MONDO_0018243 UMLS CUI C5192595 MedGen ID 1683856 Orphanet ID 369847 SNOMED CT ID 787174003

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
TRAPPC11	OTPZYXGA	Supportive	Autosomal recessive	[1]
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References

1	Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.