Microcephaly 1, Primary, Autosomal Recessive (MCPH1)

Alias:
Mcph1
Microcephaly, Primary Autosomal Recessive, 1
Premature Chromosome Condensation Syndrome
Primary Autosomal Recessive Microcephaly 1
Pcc Syndrome
Premature Chromosome Condensation with Microcephaly and Mental Retardation
Microcephaly, Type 1, Primary, Autosomal Recessive
Autosomal Recessive Primary Microcephaly
True Microcephaly
Microcephaly Vera
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly 1, Primary, Autosomal Recessive, also known as mcph1, is related to microcephaly 19, primary, autosomal recessive and microcephaly 10, primary, autosomal recessive. An important gene associated with Microcephaly 1, Primary, Autosomal Recessive is MCPH1 (Microcephalin 1). Affiliated tissues include brain and fetal brain, and related phenotypes are short stature and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
12
69
31

Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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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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