Details of Disease

General Information of Disease (ID: DISEE2GF)

Disease Name Neurodevelopmental disorder with involuntary movements
Synonyms NEDIM; neurodevelopmental disorder with involuntary movements
Definition Editor note: todo - check orphanet xref
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISEE2GF: Neurodevelopmental disorder with involuntary movements
Disease Identifiers
MONDO ID
MONDO_0060491
UMLS CUI
C4479569
OMIM ID
617493
MedGen ID
1374697

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GNAO1 TTAXD8Z Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNAO1 OTPB1RGK Strong Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 A mechanistic review on GNAO1-associated movement disorder.Neurobiol Dis. 2018 Aug;116:131-141. doi: 10.1016/j.nbd.2018.05.005. Epub 2018 May 24.
2 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.