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Polymicrogyria with Optic Nerve Hypoplasia

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polymicrogyria with Optic Nerve Hypoplasia is related to optic nerve hypoplasia, bilateral and lissencephaly 1. An important gene associated with Polymicrogyria with Optic Nerve Hypoplasia is TUBA8 (Tubulin Alpha 8). Affiliated tissues include eye and brain, and related phenotypes are seizure and neonatal hypotonia
Related ID：
MALACARDS：PLY050

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
5
--
PLY050

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

Title
PMID
Journal
Year
IF
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