microcephaly and chorioretinopathy 3
syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has material basis in compound heterozygous mutation in the TUBGCP4 gene
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microcephaly and chorioretinopathy 3
Summary
microcephaly and chorioretinopathy 3 is a rare disease[1]. It is known by 6 alternative names across languages and contexts.[2]
Key Facts
- microcephaly and chorioretinopathy 3's instance of is recorded as rare disease[3].
- microcephaly and chorioretinopathy 3's instance of is recorded as class of disease[4].
- microcephaly and chorioretinopathy 3 is a type of syndrome[5].
- microcephaly and chorioretinopathy 3 is a type of genetic disease[6].
- microcephaly and chorioretinopathy 3 is a type of microcephaly and chorioretinopathy[7].
- microcephaly and chorioretinopathy 3 is a type of autosomal recessive disease[8].
- microcephaly and chorioretinopathy 3's genetic association is recorded as TUBGCP4[9].
- microcephaly and chorioretinopathy 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080107[10].
- microcephaly and chorioretinopathy 3's exact match is recorded as http://identifiers.org/doid/DOID:0080107[11].
- microcephaly and chorioretinopathy 3's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2518[12].
- microcephaly and chorioretinopathy 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
Why It Matters
microcephaly and chorioretinopathy 3 is known by 6 alternative names across languages and contexts.[2]