Microcephaly 5, Primary, Autosomal Recessive (MCPH5)

Alias:

Mcph5

Primary Autosomal Recessive Microcephaly 5

Microcephaly Primary Autosomal Recessive 5 with Simplified Gyral Pattern

Microcephaly, Primary Autosomal Recessive, 5

Microcephaly, Type 5, Autosomal Recessive

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microcephaly 5, Primary, Autosomal Recessive, also known as mcph5, is related to microcephaly 1, primary, autosomal recessive and microcephaly. An important gene associated with Microcephaly 5, Primary, Autosomal Recessive is ASPM (Assembly Factor For Spindle Microtubules), 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 seizure and hearing impairment

Related ID：

MALACARDS：MCR239

OMIM：608716

MESH：D008831