Details of Disease

General Information of Disease (ID: DISZ34OT)

Disease Name Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Synonyms myopathy, Congenital, with neuropathy and Deafness; NEDHND; neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISZ34OT: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Disease Identifiers
MONDO ID
MONDO_0060496
UMLS CUI
C4479603
OMIM ID
617519
MedGen ID
1382171

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
SPTBN4 OTAJAVP9 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.