Microcephaly 13, Primary, Autosomal Recessive (MCPH13)

Microcephaly 13, Primary, Autosomal Recessive(来自ICD-11)
别称:
Mcph13
Primary Autosomal Recessive Microcephaly 13
Microcephaly, Type 13, Primary, Autosomal Recessive
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Microcephaly 13, Primary, Autosomal Recessive, also known as mcph13, is related to microcephaly 2, primary, autosomal recessive, with or without cortical malformations and isolated growth hormone deficiency. An important gene associated with Microcephaly 13, Primary, Autosomal Recessive is CENPE (Centromere Protein E), 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 global developmental delay and microcephaly
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MALACARDS
AR
Unknown
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13
82
1

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