Details of Disease | DrugMAP

General Information of Disease (ID: DISWJ424)

Disease Name	Neurodevelopmental disorder with severe motor impairment and absent language
Synonyms	NEDMIAL; neurodevelopmental disorder with severe motor impairment and absent language; neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISWJ424: Neurodevelopmental disorder with severe motor impairment and absent language
Disease Identifiers	MONDO ID MONDO_0060622 UMLS CUI C4540496 OMIM ID 617804 MedGen ID 1622162

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
DHX30	OT7W9CEZ	Strong	Autosomal dominant	[1]
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References

1	De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014.