MMCAT is characterised by microcornea, chorioretinal atrophy, telecanthus, and posteriorly rotated ears. Age of onset is in childhood for this disorder, and it is associated with mutations in ADAMTS18 gene.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
16q23.1
MMCAT is characterised by microcornea, chorioretinal atrophy, telecanthus, and posteriorly rotated ears. Age of onset is in childhood for this disorder, and it is associated with mutations in ADAMTS18 gene.