All individuals with variants in gene AP1S2

15 entries on 1 page. Showing entries 1 - 15.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 4 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00000406 - PubMed: Cacciagli 2014 5-generation family, 4 affecteds, 3 unaffected carrier females M no United States Dutch - 0 - - MRX;IDX see paper, {PMID:Huang 1991:1746558}; mental retardation, Dandy-Walker malformation, basal ganglia disease, seizures 1 4 Laurent Villard
00016931 - PubMed: Tarpey 2004, Journal: Tarpey 2004 4-generation family, 5 affected males, 4 unaffected carrier females M no Australia - - 0 - - MRX;IDX see paper; {PMID:Turner 2003:12599187} 1 5 Johan den Dunnen
00016932 Fam1 PubMed: Tzschach 2015 family, 4 affected, unaffected heterozygous carriermother/grandmother M - Poland - - 0 - - MRX;IDX moderate-severe intellectual disability, occasional aggressive outbursts, microcephaly, height 180 cm (75th centile), weight 65 kg (25-50th centile), OFC 52 cm (<3rd centile); 3 affected male maternal cousins, 1 hydrocephalus died shortly after birth, 1 died age 3y, 1 moderate intellectual disability 1 4 Andreas Tzschach
00025489 - PubMed: Tarpey 2004, Journal: Tarpey 2004 3-generation family, 4 affected males, 3 unaffected carrier females M no - - - 0 - - MRX;IDX see paper 1 4 Johan den Dunnen
00025490 - PubMed: Tarpey 2004, Journal: Tarpey 2004 5-generation family, 10 affected males, 8 unaffected female carriers M no United States - - 0 - - MRX;IDX see paper {PMID:Carpenter 1999:10398241} 1 10 Johan den Dunnen
00025491 - PubMed: Saillour 2007, Journal: Saillour 2007 5-generation family, 8 affected males, 6 unaffected carrier females M no France - - 0 - - MRX;IDX see paper; Fried syndrome, mental retardation, mild facial dysmorphism, calcifications of basal ganglia, hydrocephalus 1 8 Johan den Dunnen
00025492 - PubMed: Saillour 2007, Journal: Saillour 2007 3-generation family, 6 affected males, unaffected carrier females M no United Kingdom (Great Britain) Scottish - 0 - - MRX;IDX see paper; {PMID:Fried 1973:04697849}, Fried syndrome 1 6 Johan den Dunnen
00025493 - PubMed: Borck 2008 3-generation family, 3 affected males, 3 unaffected carrier females M no France - - 0 - - MRX;IDX see paper 1 3 Johan den Dunnen
00025494 - PubMed: Borck 2008 2-generation family, affected male, unaffected carrier mother M no France - - 0 - - MRX;IDX see paper 1 1 Johan den Dunnen
00025495 - PubMed: Ballarati 2012 2-generation family, unaffected carrier mother and affected son M no Italy - - 0 - - MRX;IDX see paper; marked hypotonia first months of life, psychomotor retardation, severely delayed walking/speech development, unspecific dysmorphic facial feature 1 1 Johan den Dunnen
00183139 25644381-FamN141 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183140 25644381-FamD178 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00387711 M092 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - 0 - - ID syndromic intellectual disability, no microcephaly, epilepsy 1 3 Johan den Dunnen
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