General Information of Disease (ID: DIS4O7PO)

Disease Name Neurodevelopmental disorder with seizures and brain abnormalities
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS4O7PO: Neurodevelopmental disorder with seizures and brain abnormalities
Disease Identifiers
MONDO ID
MONDO_0859188
UMLS CUI
C5561979
OMIM ID
619517
MedGen ID
1794189

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCN3 TT8XNZ7 Limited Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCN3 OTEEXNMU Limited Autosomal recessive [1]
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References

1 Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28.