Details of Disease | DrugMAP

General Information of Disease (ID: DISA0NNO)

Disease Name	Neurodevelopmental disorder with language delay and seizures
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISA0NNO: Neurodevelopmental disorder with language delay and seizures
Disease Identifiers	MONDO ID MONDO_0859256 UMLS CUI C5676998 OMIM ID 619908 MedGen ID 1805816

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
TIAM1	TTNU6I5	Strong	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
TIAM1	OTKWYXAU	Strong	Autosomal recessive	[1]
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References

1	Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.