diabetes & deafness, maternally inherited; Ballinger-Wallace syndrome
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Pathology
Genetics
- mutations in the MT-TL1, MT-TK, or MT-TE mitochondrial genes[1]
- point mutation at position 3243 in human mitochondrial DNA, affecting gene encoding tRNALeu[2]
Clinical manifestations
- chorioretinal abnormality
- constipation, intestinal malabsorption
More general terms
References
- ↑ Jump up to: 1.0 1.1 Maternally inherited diabetes and deafness Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness
- ↑ Jump up to: 2.0 2.1 Wikipedia: Diabetes mellitus and deafness https://en.wikipedia.org/wiki/Diabetes_mellitus_and_deafness