Details of Disease | DrugMAP

General Information of Disease (ID: DIS4HTIM)

Disease Name	Intellectual disability-epilepsy-extrapyramidal syndrome
Synonyms	dyskinesia, seizures, and intellectual developmental disorder; DYSEIDD; neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS4HTIM: Intellectual disability-epilepsy-extrapyramidal syndrome
Disease Identifiers	MONDO ID MONDO_0014952 UMLS CUI C4310683 OMIM ID 617171 MedGen ID 934650 Orphanet ID 468620

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
DEAF1	OTCLX3ZW	Strong	Autosomal recessive	[1]
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References

1	Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. Am J Med Genet A. 2014 Jun;164A(6):1565-70. doi: 10.1002/ajmg.a.36482. Epub 2014 Mar 25.