Details of Disease | DrugMAP

General Information of Disease (ID: DISXL3SJ)

Disease Name	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Synonyms	RESDX; ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked; ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked; rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked; rolandic epilepsy, impaired intellectual development, and speech dyspraxia; rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Disease Hierarchy	DISD715V: Hereditary neurological disease DISWM45T: Rolandic epilepsy-speech dyspraxia syndrome DISXL3SJ: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Disease Identifiers	MONDO ID MONDO_0010388 MESH ID C564467 UMLS CUI C1845070 OMIM ID 300643 MedGen ID 337150

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
SRPX2	OT6A63TX	Disputed	X-linked	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.