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Haplotype with homozygous deficiency HH35, PCDH15-related

Based on strong evidence from Swiss Holsteins, Häfliger et al. (2022) reported PCDH15; c.2599C>G as a likely causal variant for this harmful haplotype.

OMIA ID: 2548Inheritance: Häfliger et al. (2022) reported a 77% deficiency of homozygotes for this hapl...Characterised: YesYear: 2022