Details of Disease | DrugMAP

General Information of Disease (ID: DISUBWNH)

Disease Name	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Synonyms	neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter; NDAGSCW
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISUBWNH: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Disease Identifiers	MONDO ID MONDO_0060624 UMLS CUI C4540498 OMIM ID 617807 MedGen ID 1621102

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
RAB11B	OT6GI23M	Strong	Autosomal dominant	[1]
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References

1	Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26.