All individuals with variants in gene ATP11A

9 entries on 1 page. Showing entries 1 - 9.
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00435034 DFNA33_Affected PubMed: Bonsch 2009 4-generation family, 8 affected (3F, 5M) F;M no Germany - - - - - DFNA - 1 8 Barbara Vona
00470358 patient PubMed: Segawa 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NDD see paper; ..., birth-38w, birth, weight 2186 g (–1.9 SD), length 42.0 cm (–3.3 SD), OFC 31.5 cm (–1.3 SD); 14d-epilepsy; global developmental delay, mild hypothyroidism, cataracts 1 1 Johan den Dunnen
00470359 FamA-HL1515PatII2 PubMed: Pater 2022 3-generation family, 5 affected (4F, M) F no Israel Uzbekistan;jew - - - - HL see paper; ..., 39y-severe bilateral high-frequency sensorineural hearing loss 1 5 Johan den Dunnen
00470360 FamBPatIV1 PubMed: Pater 2022 4-generation family, 11 affected (3F, 8M) F - Israel Afghanistan - - - - HL see paper; ..., 17y-high-frequency bilateral sensorineural hearing loss 1 11 Johan den Dunnen
00470361 FamNFPatIV7 PubMed: Pater 2022 6-generation family, 20 affected (10F,10 M) M no Canada Europe-N - - - - HL see paper; ..., 13y-a progressive, sloping, bilateral sensorineural hearing loss 1 20 Johan den Dunnen
00470362 family PubMed: Chepurwar 2023 2-generation family, 11 affected (8F, 4M) F;M no Germany - - - - - HL see paper; ..., symmetrical, slowly progressive postlingual hearing loss, onset end first decade, leading to severe hearing impairment in fifth decade 1 11 Johan den Dunnen
00470364 Pat1 PubMed: Calianese 2024 2-generation family, 1 affected, unaffected non-carrier parents M - Canada - - - - - NDD see paper; ..., normal initial growth development/psychomotor development; childhood toe walking, progressive lower extremity spasticity; no intellectual disability; 9y-MRI brain bilateral hypomyelination 1 1 Johan den Dunnen
00470365 Pat2 PubMed: Calianese 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Hungary - - - - - NDD see paper; ..., normal initial growth development/psychomotor development; childhood toe walking, progressive lower extremity spasticity; no intellectual disability; 11y-MRI brain normal 1 1 Johan den Dunnen
00470366 Pat3 PubMed: Calianese 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD see paper; ..., normal initial growth development/psychomotor development; childhood toe walking, progressive lower extremity spasticity; mild intellectual disability, seizures; MRI brain 19y-bilateral hypomyelination, 33y-global ventriculomegaly/atrophy 1 1 Johan den Dunnen
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