Primary Autosomal Recessive Microcephaly (MCPH)

Alias:
Autosomal Recessive Primary Microcephaly
Mcph
True Microcephaly
Microcephalia Vera
Microcephaly Vera
Microcephaly, Primary, Autosomal Recessive
Microcephaly, Primary Autosomal Recessive
Microcephaly Primary Hereditary
Primary Microcephaly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Primary Autosomal Recessive Microcephaly, also known as autosomal recessive primary microcephaly, is related to microcephaly 5, primary, autosomal recessive and microcephaly 9, primary, autosomal recessive. An important gene associated with Primary Autosomal Recessive Microcephaly is MCPH1 (Microcephalin 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and EML4 and NUDC in mitotic spindle formation. Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and microcephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/100000
136
1034
13

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

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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
Journal
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IF
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