Details of Disease | DrugMAP

General Information of Disease (ID: DISDOXT0)

Disease Name	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISDOXT0: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Disease Identifiers	MONDO ID MONDO_0859347 UMLS CUI C5774285 OMIM ID 620191 MedGen ID 1824058

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
PGM2L1	OTSBNRT5	Strong	Autosomal recessive	[1]
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References

1	Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet. 2021 Jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11.