A mitochondrial disorder characterized by onset of SENSORINEURAL HEARING LOSS and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including RETINITIS PIGMENTOSA; PTOSIS; CARDIOMYOPATHY; MUSCULAR DISEASES; KIDNEY DISEASES, and neuropsychiatric symptoms. Mutations in the MITOCHONDRIAL GENES MTTL1, MTTE, and MTTK have been identified. OMIM: 520000
Also Known As:
Ballinger-Wallace Syndrome; Diabetes Mellitus, Type II, With Deafness; Diabetes and deafness, maternally inherited; Diabetes mellitus, type 2, with deafness; Diabetes-deafness syndrome, maternally transmitted; Maternally Transmitted Diabetes-Deafness Syndrome; Maternally inherited diabetes and deafness; Mitochondrial Inherited Diabetes and Deafness; NIDDM with deafness