Details of Disease | DrugMAP

General Information of Disease (ID: DISILZ09)

Disease Name	Neurodevelopmental disorder with seizures and speech and walking impairment
Synonyms	NEDSSWI; NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; deoxyhypusine synthase disorder
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISILZ09: Neurodevelopmental disorder with seizures and speech and walking impairment
Disease Identifiers	MONDO ID MONDO_0032775 UMLS CUI C5193119 OMIM ID 618480 MedGen ID 1672912

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
DHPS	TTBO2A9	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
DHPS	OTQIG7BL	Strong	Autosomal recessive	[1]
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References

1	Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Feb 7;104(2):287-298. doi: 10.1016/j.ajhg.2018.12.017. Epub 2019 Jan 17.