Details of Disease | DrugMAP

General Information of Disease (ID: DIS06AMV)

Disease Name	X-linked intellectual disability-hypotonia-movement disorder syndrome
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DIS06AMV: X-linked intellectual disability-hypotonia-movement disorder syndrome
Disease Identifiers	MONDO ID MONDO_0018709 UMLS CUI C5681121 MedGen ID 1814468 Orphanet ID 457260 SNOMED CT ID 1254654006

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
DDX3X	OTDO4TRX	Supportive	X-linked	[1]
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References

1	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30.