Details of Disease | DrugMAP

General Information of Disease (ID: DISR5JWN)

Disease Name	Dworschak-Punetha neurodevelopmental syndrome
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISR5JWN: Dworschak-Punetha neurodevelopmental syndrome
Disease Identifiers	MONDO ID MONDO_0859260 UMLS CUI C5677017 OMIM ID 619955 MedGen ID 1800957

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
PLXNA1	OTN0BING	Strong	Autosomal recessive	[1]
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References

1	Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30.