All individuals with variants in gene TPO

5 entries on 1 page. Showing entries 1 - 5.
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00050209 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00050263 - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00050338 - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00296605 Pat38 PubMed: Taylor 2014 - M yes Turkey - - 0 - - ? muscle affected; central nervous system affected; heart not affected; liver affected; lactic acidosis, growth retardation 1 1 Johan den Dunnen
00303298 Pat3 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - 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 2 1 Johan den Dunnen
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