Details of Disease

General Information of Disease (ID: DISP9EBZ)

Disease Name Neurodevelopmental disorder with poor growth and behavioral abnormalities
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISP9EBZ: Neurodevelopmental disorder with poor growth and behavioral abnormalities
Disease Identifiers
MONDO ID
MONDO_0859377
UMLS CUI
C5830273
OMIM ID
620242
MedGen ID
1840909

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
ATP9A OT328F1L Strong Autosomal recessive [1]
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References

1 Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. J Med Genet. 2022 Jul;59(7):662-668. doi: 10.1136/jmedgenet-2021-107843. Epub 2021 Jun 18.