Details of Disease

General Information of Disease (ID: DISZ3R2R)

Disease Name Cerebellar, ocular, craniofacial, and genital syndrome
Synonyms COFG; CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME
Disease Hierarchy
DISYKSRF: Genetic disease
DISZ3R2R: Cerebellar, ocular, craniofacial, and genital syndrome
Disease Identifiers
MONDO ID
MONDO_0032774
UMLS CUI
C5193118
OMIM ID
618479
MedGen ID
1680057

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
MAB21L1 OT8FJMU8 Strong Autosomal recessive [1]
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References

1 MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.