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Disorder of ear
- ... been found to cause auriculo-condylar syndrome, a disorder that primarily affects the development of the ears and lower jaw (mandible). The identified mutations change ...
- ... been found to cause auriculo-condylar syndrome, a disorder that primarily affects the development of the ears and lower jaw (mandible). The identified mutations change ...
- ... ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include difficulty coordinating movements (ataxia), hearing loss caused by abnormalities of the inner ear (sensorineural deafness), and excessive daytime sleepiness (narcolepsy). Cognitive ...
- ... the RPGR gene can cause a variety of disorders. Studies suggest that certain mutations may disrupt the function of cilia in multiple tissues, including the inner ear and respiratory tract. Malfunctioning cilia in these tissues ...
- ... for several of the features common in the disorder: coloboma, heart defect, atresia choanae (also known as choanal atresia), growth retardation, genital abnormality, and ear abnormality. More than 600 mutations that can cause ...
- ... people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by changes in the inner ear (sensorineural hearing loss).Mutations in the ATP6V0A4 gene ...
- ... addition to salt wasting, this form of the disorder is characterized by hearing loss that results from a loss of ClC-Ka and ClC-Kb function in the inner ear. More About This Health Condition Mutations in the ...
- ... people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by changes in the inner ear (sensorineural hearing loss).Mutations in the ATP6V1B1 gene ...
- ... causing intellectual disability, delayed development, or autism spectrum disorder, which is a condition that affects communication and social interaction. Abnormalities of other body systems, including the eyes, heart, inner ear, or kidneys, can also occur.Many of the ...
- ... cause lacrimo-auriculo-dento-digital (LADD) syndrome. This disorder affects the formation of the lacrimal system (the system in the eyes that produces and secretes tears), the ears, the salivary glands (the glands in the mouth ...