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Что (кто) такое Y-linked deafness, type 1 - определение
Y-linked deafness, type 1
HUMAN DISEASE
Y-linked deafness, type 1 is a very rare type of hereditary non-syndromic deafness characterized by progressive hearing loss that exclusively affects males. It has been described in 42 males from 2 multi-generational Chinese families.
Nonsyndromic deafness
AUDITORY SYSTEM DISEASE THAT IS ASSOCIATED WITH PERMANENT HEARING LOSS CAUSED BY DAMAGE TO STRUCTURES IN THE INNER EAR AND/OR THE MIDDLE EAR, WHICH IS NOT ASSOCIATED WITH OTHER SIGNS AND SYMPTOMS
Nonsyndromic deafness, autosomal dominant; Nonsyndromic hearing loss and deafness; Non-syndromic deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body.
Waardenburg Syndrome Type 1
HUMAN DISEASE
Waardenburg syndrome type 1; Draft:Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest during early development. Type 1 results in early graying and white forelock and a notable distance between the eyes, noted as dystopia canthorum.
