Details of Disease

General Information of Disease (ID: DIS38GW2)

Disease Name Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS38GW2: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
Disease Identifiers
MONDO ID
MONDO_0859250
UMLS CUI
C5676986
OMIM ID
619876
MedGen ID
1810140

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
CPSF3 OTS3KSNG Limited Autosomal recessive [1]
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References

1 Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. Nat Commun. 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8.