Hernia, abdominal, TWIST1-related
Phenotype Details
- Phene ID
- 4933
- Name
- Hernia, abdominal, TWIST1-related
- Phene Name
- N/A
- OMIA ID
- 2532
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Summary
Grohs et al. (2022): "this study expands the clinical spectrum of TWIST1 haploinsufficiency in Mammals by reporting the first evidence (to our knowledge) of abdominal hernia in a small proportion of cattle heterozygous for a natural frameshift variant"
Inheritance
Grohs et al. (2022): "Pedigree analysis suggested an autosomal dominant inheritance with incomplete penetrance and revealed that all cases descended from one founder of the French polled Charolais population born in 1988 (DEDAIN: CHAFRAM009588100135".