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albinism [2025/10/29 19:58] – Scott Larsonalbinism [2025/10/29 20:00] (current) – Scott Larson
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       * female carriers have mosaic pigmentation of peripheral fundus       * female carriers have mosaic pigmentation of peripheral fundus
     * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600,     * OA2: Families from Aland Islands in the Sea of Bothnia, female carriers do not have a mosaic pattern, possibly a type of CSNB (310500), (Xp11.4-p11.23) OMIM: 300600,
-    * OA3: Autosomal recessive: OMIM: 203310 (6q13-q15) or (15q11.2-q12) +    * OA3: Autosomal recessive. [[https://omim.org/entry/203200 | OMIM reference]] (6q13-q15) or (15q11.2-q12) 
-    * OA with sensorineural deafness: OMIM: 103470 (11q14-q21, 3p14.1-p12.3)+    * OA with sensorineural deafness: [[https://www.omim.org/entry/193510 |OMIM reference]] (11q14-q21, 3p14.1-p12.3)
       * Waardenberg Syndrome type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene       * Waardenberg Syndrome type II with ocular albinism, mutation in the transcription factor MITF which regulates the TYR gene