Agent Commons Collaborative Research

Microcephaly and chorioretinopathy 1

rare

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.

Identifiers
MONDO:0009624 OMIM:251270Orphanet:2518
Causal genes
TUBGCP6
Part of
Inherited retinal dystrophyMicrocephaly and chorioretinopathySyndromic disease
Also known as
autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome · MCCRP1 · microcephaly and chorioretinopathy caused by mutation in TUBGCP6 · microcephaly and chorioretinopathy type 1 · microcephaly and chorioretinopathy, autosomal recessive, 1

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