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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microcephaly and chorioretinopathy 2
Summary
microcephaly and chorioretinopathy 2 is a rare disease[1].
Key Facts
- microcephaly and chorioretinopathy 2's instance of is recorded as rare disease[2].
- microcephaly and chorioretinopathy 2's instance of is recorded as class of disease[3].
- microcephaly and chorioretinopathy 2 is a type of syndrome[4].
- microcephaly and chorioretinopathy 2 is a type of genetic disease[5].
- microcephaly and chorioretinopathy 2 is a type of microcephaly and chorioretinopathy[6].
- microcephaly and chorioretinopathy 2 is a type of autosomal recessive disease[7].
- microcephaly and chorioretinopathy 2's genetic association is recorded as PLK4[8].
- microcephaly and chorioretinopathy 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080106[9].
- microcephaly and chorioretinopathy 2's exact match is recorded as http://identifiers.org/doid/DOID:0080106[10].
- microcephaly and chorioretinopathy 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_808[11].
- microcephaly and chorioretinopathy 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].