Microcephaly 12, Primary, Autosomal Recessive (MCPH12)

Alias:
Mcph12
Primary Autosomal Recessive Microcephaly 12
Microcephaly, Type 12, Primary, Autosomal Recessive
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly 12, Primary, Autosomal Recessive, also known as mcph12, is related to isolated growth hormone deficiency and female-restricted syndromic x-linked intellectual disability 99. An important gene associated with Microcephaly 12, Primary, Autosomal Recessive is CDK6 (Cyclin Dependent Kinase 6), and among its related pathways/superpathways are Cell Cycle, Mitotic and EML4 and NUDC in mitotic spindle formation. Affiliated tissues include cortex and brain, and related phenotypes are intellectual disability, mild and sloping forehead
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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12
79
1

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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