Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures (NEDHCS)

Alias:
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Nedhcs
Pmred
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures, is also known as psychomotor retardation, epilepsy, and craniofacial dysmorphism. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Craniofacial Abnormalities, and Seizures is SNIP1 (Smad Nuclear Interacting Protein 1). Affiliated tissues include tongue and heart, and related phenotypes are seizure and high palate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
2

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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