Chromosome 16q12 Duplication Syndrome

Alias:

Cone Dystrophy with Early-Onset Tritanopic Color Vision Defect

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Medical Symptom

Gene & Mutation

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Disease Model

References Literature

Chromosome 16q12 Duplication Syndrome, is also known as cone dystrophy with early-onset tritanopic color vision defect. An important gene associated with Chromosome 16q12 Duplication Syndrome is C16DUPQ12 (Chromosome 16q12 Duplication Syndrome). Related phenotypes are tritanomaly and reduced visual acuity

Related ID：

MALACARDS：CHR720

OMIM：619649