Microcephaly and Chorioretinopathy 1
Autoszomális recesszív
This condition is caused by changes in both copies of TUBGCP6, which encodes a tubulin-gamma complex associated protein.
Tünetek és jelek
A small head (microcephaly), which can be recognised before birth, and chorioretinopathy, with changes in the retina that can reduce vision, are the main features. Developmental delay or intellectual disability of varying degree and short stature have been reported.
Mit változtat a diagnózis
Regular eye examinations with low-vision support, growth monitoring, and developmental and educational support are the mainstays. Genetic counselling is recommended; parents are usually carriers, and carrier testing can be offered to relatives.
Vizsgált gének
Más néven
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; microcephaly and chorioretinopathy, autosomal recessive, type 1; Pseudotoxoplasmosis syndrome; TUBGCP6 microcephaly and chorioretinopathy
