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Cataract, recessive, CPAMD8-related — Morgagnian cataract

Hollmann et al. (2017): "Whole genome re-sequencing of one case and four relatives showed a nonsense mutation (g.5995966C>T) in the PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8) gene leading to a premature stop codon (CPAMD8 p.Gln74*)".

OMIA ID: 2111Inheritance: Hollmann et al. (2017): "an autosomal recessive inheritance of the cataract p...Characterised: YesYear: 2017
Genes:None linked
Variants:Cataract, recessive, CPAMD8-related
Breeds:Holstein (red and white) (Cattle)