Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas...
2 KB (146 words) - 04:54, 5 May 2024
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized...
5 KB (471 words) - 09:55, 6 August 2024
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated...
39 KB (3,840 words) - 17:09, 9 July 2024
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular...
5 KB (301 words) - 10:12, 12 August 2024
albinism, (2) B – black lock of hair, (3) C – cell migration disorder of the neurocytes of the gut, and (4) D – sensorineural deafness. The syndrome is...
13 KB (1,725 words) - 14:35, 26 May 2024
Alagille–Watson syndrome (AWS) Alar nasal cartilages coloboma of telecanthus Albers–Schonberg disease Albinism Albinism deafness syndrome Albinism immunodeficiency...
24 KB (1,972 words) - 21:28, 16 August 2024
results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak–Higashi syndrome, the lysosomal trafficking regulator (LYST)...
13 KB (1,317 words) - 19:21, 13 January 2024
Al-Raqad syndrome Alagille syndrome Albinism–deafness syndrome Alcohol withdrawal syndrome Alezzandrini syndrome Alice in Wonderland syndrome Alien hand...
42 KB (4,065 words) - 03:07, 17 August 2024
estimated that Waardenburg syndrome is present in 2–5% of congenitally deaf people. Congenital deafness comprises around half of deafness as a whole. About 1...
48 KB (5,759 words) - 18:57, 13 August 2024
Ocular albinism late onset sensorineural deafness (OASD) is a rare, X-linked recessive disease characterized by intense visual impairments, reduced retinal...
20 KB (2,292 words) - 08:30, 9 October 2023