Details of Disease

General Information of Disease (ID: DISWVI1Q)

Disease Name Neuromuscular disease and ocular or auditory anomalies with or without seizures
Synonyms NMOAS; NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES
Disease Hierarchy
DISYKSRF: Genetic disease
DISWVI1Q: Neuromuscular disease and ocular or auditory anomalies with or without seizures
Disease Identifiers
MONDO ID
MONDO_0032890
UMLS CUI
C5231483
OMIM ID
618733
MedGen ID
1684689

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
DHX16 OTW8KZAU Strong Autosomal dominant [1]
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References

1 Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.