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Occipital Encephalocele

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Occipital Encephalocele is related to knobloch syndrome and knobloch syndrome 1. An important gene associated with Occipital Encephalocele is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Ciliopathies and Joubert syndrome. Affiliated tissues include cerebellum and brain, and related phenotype is cardiovascular system.
Related ID：
MALACARDS：OCC011

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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7
60
1
OCC011

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
Year
IF
No Data Found!
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