Details of Disease | DrugMAP

General Information of Disease (ID: DISOL6BE)

Disease Name	X-linked spasticity-intellectual disability-epilepsy syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISOL6BE: X-linked spasticity-intellectual disability-epilepsy syndrome
Disease Identifiers	MONDO ID MONDO_0017856 UMLS CUI C4510949 MedGen ID 1376165 Orphanet ID 3175 SNOMED CT ID 725163002

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
ARX	OTBGYH25	Supportive	X-linked	[1]
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References

1	X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology. 2002 Aug 13;59(3):348-56. doi: 10.1212/wnl.59.3.348.