All individuals with variants in gene ANO1

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00359553 FamPat2 PubMed: Park 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Syria Kurdish - - - - ? see paper; ..., born prematurely 35+1w; pregnancy polyhydramnios; 3w-feeding problems, diarrhoea, weight loss, mild muscular hypotonia; abdominal ultrasound distended intestinal loops; <1y-bilateral cataracts requiring lens replacement, delayed motor and language development required physical and speech therapy, planovalgus feet were treated with orthoses; no signs cystic fibrosis, no dystrophy 1 2 Johan den Dunnen
00359555 FamPat1 PubMed: Park 2021 sister F - Syria Kurdish - - - - ? born 37+2w; pregnancy complicated by polyhydramnios; 7d-recurrent bouts of intestinal disease marked by diarrhoea alternating with reduced intestinal motility; dysmorphic features, arched palate, low set ears, broad philtrum; developed intestinal and hepatic portal venous gas interpreted as atypical NEC corresponding to Bell stage IIB and treated with antibiotics and parenteral nutrition, three similar episodes observed, general state was not severely affected during these bouts of illness; developed dystrophy; bodyweight, length and head circumference all below third age percentile; 5m-haemorrhagic diarrhoea, projectile vomiting; ultrasound distended intestinal loops, grossly distended abdomen; condition worsened within hours, cardiac arrest, died following a period of prolonged, ultimately unsuccessful cardiopulmonary resuscitation 1 1 Johan den Dunnen
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