Details of Disease

General Information of Disease (ID: DISUBUVD)

Disease Name Pontocerebellar hypoplasia, type 1F
Synonyms pontocerebellar hypoplasia, type 1F; PCH1F
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISUBUVD: Pontocerebellar hypoplasia, type 1F
Disease Identifiers
MONDO ID
MONDO_0030261
UMLS CUI
C5543331
OMIM ID
619304
MedGen ID
1785905

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
EXOSC1 OTB1QQJJ Limited Autosomal recessive [1]
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References

1 Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28.