Details of Disease

General Information of Disease (ID: DIS82TFH)

Disease Name Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Synonyms NEDAMSS; IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYOKTG: Mendelian neurodevelopmental disorder
DIS82TFH: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Disease Identifiers
MONDO ID
MONDO_0060759
UMLS CUI
C4748127
OMIM ID
618088
MedGen ID
1648345
Orphanet ID
597623

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
IRF2BPL OTV8MNT1 Strong Autosomal dominant [1]
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References

1 IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26.