C129306Level 6
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1
**Semantic type:** Disease or Syndrome
**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.
**Synonyms:** - MCCRP1
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