Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures (NEDHYMS)

Alias:
Nedhyms
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures, also known as nedhyms, is related to cortical blindness. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures is ADARB1 (Adenosine Deaminase RNA Specific B1), and among its related pathways/superpathways is Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
11
4

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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