Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skeletal Anomalies, with or Without Seizures (NEDFSS)

Alias:
Nedfss
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skeletal Anomalies, with or Without Seizures, is also known as nedfss. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skeletal Anomalies, with or Without Seizures is TRPM3 (Transient Receptor Potential Cation Channel Subfamily M Member 3). Affiliated tissues include brain and eye, 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
AD
Unknown
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1
7
7

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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