Microcephaly 16, Primary, Autosomal Recessive (MCPH16)

Alias:
Mcph16
Primary Autosomal Recessive Microcephaly 16
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly 16, Primary, Autosomal Recessive, also known as mcph16, is related to microcephaly 19, primary, autosomal recessive and microcephaly 2, primary, autosomal recessive, with or without cortical malformations. An important gene associated with Microcephaly 16, Primary, Autosomal Recessive is ANKLE2 (Ankyrin Repeat And LEM Domain Containing 2). Affiliated tissues include cortex and brain, and related phenotypes are spasticity and agenesis of corpus callosum
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
10
65
4

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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