Details of Disease

General Information of Disease (ID: DISAWEN9)

Disease Name Obsolete endosteal sclerosis-cerebellar hypoplasia syndrome
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISAWEN9: Obsolete endosteal sclerosis-cerebellar hypoplasia syndrome

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
POLR3B OT3FS9MB Supportive Autosomal recessive [1]
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References

1 Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. Eur J Hum Genet. 2017 Aug;25(8):1011-1014. doi: 10.1038/ejhg.2017.73. Epub 2017 Jun 7.