Search Phenotypes

Haplotype with homozygous deficiency HH13, KIR2DS1-related

Based on strong evidence obtained in Swiss Holsteins, Häfliger et al (2022) proposed KIR2DS1:p.Gln159* as the likely causal variant for haplotype HH13.

OMIA ID: 1836Inheritance: Häfliger et al. (2022) reported that "no single homozygous carrier of the . ....Characterised: YesYear: 2022

Haplotype with homozygous deficiency HH25, RIOX1-related

No summary available.

OMIA ID: 2547Inheritance: Häfliger et al. (2022) reported a 75% deficiency of homozygotes for this hapl...Characterised: YesYear: 2022