Search Phenotypes

Haplotype with homozygous deficiency NH7, CAD-related

Mesbah-Uddin et al. (2019) reported a likely causal variant as a "missense mutation CAD g.72399397T>C (p.Tyr452Cys)"

OMIA ID: 2201Inheritance: 6Characterised: YesYear: 2019

Haplotype with homozygous deficiency, NOA1-related

Besnard et al. (2023) "present a data-mining framework designed to detect recessive defects in livestock that have been previously missed due to a lack of specific signs, incomplete penetrance, or incomplete linkage disequilibrium. This approach leverages the massive data generated by genomic selection. Its basic principle is to compare the observed and expected numbers of homozygotes for sliding haplotypes in animals with different life histo...

OMIA ID: 2874Inheritance: 11Characterised: YesYear: 2023