Details of Disease

General Information of Disease (ID: DISD2F28)

Disease Name Ventriculomegaly and arthrogryposis
Disease Hierarchy
DISYKSRF: Genetic disease
DISD2F28: Ventriculomegaly and arthrogryposis
Disease Identifiers
MONDO ID
MONDO_0859184
UMLS CUI
C5561973
OMIM ID
619501
MedGen ID
1794183

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
KIDINS220 OTLBH2MA Strong Autosomal recessive [1]
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References

1 Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures. Hum Mol Genet. 2017 Oct 1;26(19):3792-3796. doi: 10.1093/hmg/ddx263.