Details of Disease

General Information of Disease (ID: DISR3K8S)

Disease Name Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Synonyms IDDECA; intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Disease Hierarchy
DISYKSRF: Genetic disease
DISR3K8S: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Disease Identifiers
MONDO ID
MONDO_0060745
UMLS CUI
C4748041
OMIM ID
618060
MedGen ID
1648354

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RORA TT1TYN7 Strong Autosomal dominant [1]
RORA TT1TYN7 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RORA OTGQT12P Strong Autosomal dominant [1]
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References

1 Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.
2 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.