Details of Disease

General Information of Disease (ID: DISNQAS6)

Disease Name Developmental delay with hypotonia, myopathy, and brain abnormalities
Disease Hierarchy
DISYKSRF: Genetic disease
DISNQAS6: Developmental delay with hypotonia, myopathy, and brain abnormalities
Disease Identifiers
MONDO ID
MONDO_0859375
UMLS CUI
C5830270
OMIM ID
620240
MedGen ID
1840906

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
GOLGA2 OT5S9KYM Strong Autosomal recessive [1]
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References

1 GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet. 2016 Feb;135(2):245-251. doi: 10.1007/s00439-015-1632-8. Epub 2016 Jan 7.