Details of Disease

General Information of Disease (ID: DISP52EF)

Disease Name Neurodevelopmental disorder with poor growth and skeletal anomalies
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISP52EF: Neurodevelopmental disorder with poor growth and skeletal anomalies
Disease Identifiers
MONDO ID
MONDO_0859252
UMLS CUI
C5676990
OMIM ID
619880
MedGen ID
1804653

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
PCDHGC4 OTCMFHW9 Strong Autosomal recessive [1]
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References

1 Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9.