/microcephaly and chorioretinopathy 1

microcephaly and chorioretinopathy 1

Rare Disease

MONDO:0009624

Also Known As

Pseudotoxoplasmosis syndromeTUBGCP6 microcephaly and chorioretinopathyautosomal recessive chorioretinopathy-microcephaly-intellectual disability syndromemicrocephaly and chorioretinopathy 1microcephaly and chorioretinopathy caused by mutation in TUBGCP6microcephaly and chorioretinopathy type 1microcephaly and chorioretinopathy, autosomal recessive, type 1MCCRP1autosomal recessive chorioretinopathy-microcephaly syndromemicrocephaly and chorioretinopathy, autosomal recessive, 1

Definition

An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.