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Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination (NECFM)

Alias:
Necfm
Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination, is also known as necfm. An important gene associated with Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination is NACC1 (Nucleus Accumbens Associated 1). Affiliated tissues include brain and eye, and related phenotypes are seizure and failure to thrive
Related ID：
MALACARDS：NRD031
OMIM：617393
MESH：D065886

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
5
1
NRD031

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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