microcephaly and chorioretinopathy 2 (Q22938882)

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syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has material basis in homozygous mutation in the PLK4 gene
  • MCCRP2
  • MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2
  • MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
  • microcephaly and chorioretinopathy type 2
  • Microcephaly and Chorioretinopathy, Autosomal Recessive, type 2
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Language Label Description Also known as
English
microcephaly and chorioretinopathy 2
syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has material basis in homozygous mutation in the PLK4 gene
  • MCCRP2
  • MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2
  • MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
  • microcephaly and chorioretinopathy type 2
  • Microcephaly and Chorioretinopathy, Autosomal Recessive, type 2

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