All individuals with variants in gene SLC4A4

16 entries on 1 page. Showing entries 1 - 16.
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00117565 - PubMed: Igarashi 2001 2-generation family, unaffected carrier parents - ? Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); mental retardation, growth retardation, glaucoma, no evidence cataracts/band keratopathy 2 2 Mark Parker
00117566 - - 2-generation family, unaffected carrier parents - yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); mental retardation, growth retardation, glaucoma, cataracts, band keratopathy; elevated serum amylase; calcification of basal ganglia 2 2 Mark Parker
00117567 - PubMed: Demirci 2006 patient adopted M ? United States - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Motor and mental retardation, growth retardation, glaucoma, cataracts, and band keratopathy. Dental abnormalities. Migraines. 19 1 Mark Parker
00117568 - - 2-generation family, 1 affected, 3 unaffected carriers F no United States Jewish - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); growth retardation, glaucoma, and cataracts. Poor dentition. Normal intelligence. No specific mention of band keratopathy, but corneal clouding was evident. Also some evidence of respiratory acidosis (i.e. elevated pCO2). 2 2 Mark Parker
00117569 - - 2-generation family, 1 affected, unaffected carrier parents M yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, and band keratopathy. No specific mention of mental retardation or glaucoma. 2 2 Mark Parker
00117570 - - 2-generation family, 1 affected, unaffected carrier parents F yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, and band keratopathy. Normal intelligence and no glaucoma. 2 2 Mark Parker
00117571 - - 2-generation family, unaffected carrier parents - no Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); growth retardation, glaucoma, cataracts, band keratopathy; no mention mental retardation; migraines 2 2 Mark Parker
00117572 - - 2-generation family, 1 affected, unaffected carrier parents F no China - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, glaucoma, cataracts, and band keratopathy. Calcification of basal ganglia. No mention of mental retardation. 2 2 Mark Parker
00117573 - - 2-generation family, 1 affected, unaffected carrier parents M yes - Europe, North; white - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, band keratopathy. Dental abnormalities. Calcification of basal ganglia. Normal intelligence. No glaucoma, but elevated ocular pressure. Elevated serum lipase and amylase9. 2 2 Mark Parker
00117574 - - 2-generation family, 1 affected, unaffected carrier parents F yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Motor and mental retardation, growth retardation, low weight, glaucoma, cataracts, band keratopathy, and calcification of basal ganglia (17). 2 2 Mark Parker
00117575 - - 2-generation family, 1 affected, unaffected carrier parents F yes Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); Growth retardation, glaucoma, cataracts. No specific mention of mental retardation or band keratopathy. Elevated serum amylase. Migraines(5). 2 2 Mark Parker
00117576 - - 4-generation family, 2 affected sisters, 6 unaffected carriers F ? Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); glaucoma, cataracts, band keratopathy, hemiplegic migraine, normal intelligence/stature, epilepsy, nausea 2 4 Mark Parker
00117577 - - 4-generation family, 2 affected sisters, 6 unaffected carriers F ? Japan - - - - - acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation renal tubular acidosis, proximal (pRTA); 2 1 Mark Parker
00293659 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303298 Pat3 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 162.6 cm (SD −1.6), weight 67.5kg (SD 0.40); mild developmental delay/intellectual disability; 14m-walk; 2.5y-first words, 3y-speech therapy; no regression; no seizures; ultrasound brain normal; no muscular hypotonia; autistic features in infancy; ventricle septum defect, bicuspid aortic valve, hypoplastic aortic arch, dilated cardiomyopathy; unilateral agenesis; cryptorchidism; tracheesophageal fistula, imperforate anus; sacrum segmentation anomaly, brachydactyly; tethered cord, hypothyroidism 1 1 Johan den Dunnen
00331850 11DG0394 PubMed: Alsaif 2019 familial - - Saudi Arabia - - - - - retinal disease primary congenital glaucoma, band keratopathy 1 1 LOVD
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