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GENATLAS PHENOTYPE

last update : 03-01-2023

Symbol	MMCAT
Location	16q23.1
Name	microcornea, myopic chorioretinal atrophy, and telecanthus
Corresponding gene	ADAMTS18
Main clinical features	developmental disorder characterised by high myopia, and vitreo-retinal degeneration. with ectopia lentis, cataract, and myopia microcornea and myopic chorioretinal atrophy, telecanthus and posteriorly rotated ears
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

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