Microhydranencephaly (MHAC)

Alias:
Nde1-Related Microhydranencephaly
Mhac
Hydranencephaly and Microcephaly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microhydranencephaly, also known as nde1-related microhydranencephaly, is related to microhydranencephaly, x-linked and microcephaly, and has symptoms including athetosis and myoclonic seizures. An important gene associated with Microhydranencephaly is NDE1 (NudE Neurodevelopment Protein 1). Affiliated tissues include brain and cerebellum, and related phenotypes are agenesis of corpus callosum and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
1
4
6

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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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
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IF
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