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Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) is a rare condition caused by a change in the DexH-box helicase 30 (DHX30) gene. The most common signs and symptoms are severe intellectual, speech and walking impairment. Infants with the disorder have low muscle tone, delayed mental and motor skills, and problems feeding. Many children with the disorder are non-verbal, although some use a few words. Walking is difficult for children with this rare disorder. Children who walk independently have an unsteady gait. Additional symptoms vary, but may include autistic features, behavior challenges, sleep disorder, seizures, hyper-flexible joints, involuntary movements, distinctive facial features, and strabismus.
Source: GARD Last updated on 05-01-20
Lessel D, Schob C, Küry S, Reijnders MRF et al., 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.
Last updated on 04-27-20
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