Neurodevelopmental Disorder with Variable Motor and Language Impairment (NEDMIAL)

Alias:

Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language

Nedmial

Dhx30-Related Neurodevelopmental Delay-Intellectual Disability-Ataxia-Feeding Difficulty Syndrome

Neurodevelopmental Delay-Intellectual Disability-Ataxia-Feeding Difficulty Syndrome

Neurodevelopmental Disorder with Variable Motor and Speech Impairment

Dhx30-Related Neurodevelopmental Disorder

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with Variable Motor and Language Impairment, also known as neurodevelopmental disorder with severe motor impairment and absent language, is related to strabismus and cerebellar atrophy, developmental delay, and seizures. An important gene associated with Neurodevelopmental Disorder with Variable Motor and Language Impairment is DHX30 (DExH-Box Helicase 30). Affiliated tissues include brain.

Related ID：

MALACARDS：NRD186

OMIM：617804

MESH：D065886