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
Language | Label | Description | Also known as |
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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 |
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