Brittle cornea syndrome 1

MONDO:0024543

Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.

Also known as: ZNF469 brittle cornea syndrome, brittle cornea syndrome 1, brittle cornea syndrome caused by mutation in ZNF469, BCS1, Ehlers-Danlos syndrome, type Vib, Ehlers-Danlos syndrome, type Vib, formerly, Fragilitas oculi with Joint hyperextensibility, corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility

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