Details of Disease | DrugMAP

General Information of Disease (ID: DISIJ1OP)

Disease Name	Neurodevelopmental disorder with hypotonia and brain abnormalities
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISIJ1OP: Neurodevelopmental disorder with hypotonia and brain abnormalities
Disease Identifiers	MONDO ID MONDO_0859187 UMLS CUI C5561977 OMIM ID 619512 MedGen ID 1794187

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	Strong	Autosomal dominant	[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	Strong	Autosomal dominant	[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.