Neurodevelopmental Disorder with Hearing Loss and Spasticity (NEDHLS)

Alias:
Nedhls
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Hearing Loss and Spasticity, also known as nedhls, is related to deafness, autosomal recessive 119. An important gene associated with Neurodevelopmental Disorder with Hearing Loss and Spasticity is AFG2B (AFG2 AAA ATPase Homolog B). Affiliated tissues include brain, and related phenotypes are global developmental delay and spastic tetraplegia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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Medical Symptom

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Gene & Mutation

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References Literature

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