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Septopreoptic Holoprosencephaly

Alias:
Septopreoptic Hpe
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Septopreoptic Holoprosencephaly, also known as septopreoptic hpe, is related to holoprosencephaly 1 and microcephaly. An important gene associated with Septopreoptic Holoprosencephaly is CDON (Cell Adhesion Associated, Oncogene Regulated), and among its related pathways/superpathways are Signal Transduction and Nervous system development. Affiliated tissues include brain and pons, and related phenotypes are intellectual disability and precocious puberty
Related ID：
MALACARDS：SPT016

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Newborn
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14
217
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SPT016

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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