Microcephaly 10, Primary, Autosomal Recessive (MCPH10)

Alias:
Microcephalic Primordial Dwarfism Due to Znf335 Deficiency
Mcph10
Primary Autosomal Recessive Microcephaly 10
Microcephaly, Type 10, Primary, Autosomal Recessive
Microcephalic Primordial Dwarfism, Walsh Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly 10, Primary, Autosomal Recessive, also known as microcephalic primordial dwarfism due to znf335 deficiency, is related to microcephaly and primary autosomal recessive microcephaly, and has symptoms including muscle spasticity An important gene associated with Microcephaly 10, Primary, Autosomal Recessive is ZNF335 (Zinc Finger Protein 335), 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 microcephaly and ventriculomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
10
53
4

Medical Symptom

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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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MGI
Related Gene
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Publications
No data available

References Literature

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IF
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