Details of Disease | DrugMAP

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.