All individuals with variants in gene NKAP

13 entries on 1 page. Showing entries 1 - 13.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
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) 6 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) 7 1 Yu Sun
00173666 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 9 Lucy Raymond
00266193 Pat1 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - 0 - - ? developmental delay, intellectual disability; no ADHD/aggressive behavior; hypotonia; long face, short philtrum, open mouth appearance, no midface hypoplasia, prominent/large ears; 10y-atrial septal defect; tall stature, scoliosis, pectus, slender limbs, joint laxity, camptodactyly, arachnodactyly 1 1 Johan den Dunnen
00266194 Pat2 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Korea - - 0 - - ? developmental delay, intellectual disability; no ADHD/aggressive behavior; hypotonia; long face, short philtrum, open mouth appearance, midface hypoplasia, prominent/large ears; 6y-small patent ductal arteriosus; tall stature, scoliosis, no pectus, slender limbs, joint laxity, no camptodactyly, arachnodactyly 1 1 Johan den Dunnen
00266195 Fam1Pat3 PubMed: Fiordaliso 2019 2-generation family, 2 affected brothers, unaffected non-carrier parents M - Japan - - 0 - - ? developmental delay, intellectual disability; no ADHD/aggressive behavior; hypotonia; long face, short philtrum, open mouth appearance, midface hypoplasia, no prominent/large ears; 18y-mild mitral valve regurgitation; tall stature, scoliosis, no pectus, slender limbs, joint laxity, camptodactyly, arachnodactyly; cryptorchidism; central obesity 1 2 Johan den Dunnen
00266196 Fam1Pat4 PubMed: Fiordaliso 2019 - M - Japan - - 0 - - ? developmental delay, intellectual disability; ADHD/aggressive behavior; hypotonia; long face, short philtrum, open mouth appearance, midface hypoplasia, prominent/large ears; 10y-mitral valve prolapse, mitral regurgitation and aortic root dilatation; tall stature, scoliosis, no pectus, slender limbs, joint laxity, no camptodactyly, arachnodactyly; cryptorchidism; no central obesity 1 1 Johan den Dunnen
00266197 Fam2Pat5 PubMed: Fiordaliso 2019 3-generation family, 4 affected (4M), 2 carrier mothers M no Slovakia (Slovak Republic) - - 0 - - ? developmental delay, intellectual disability; ADHD/aggressive behavior; hypotonia; long face, no short philtrum, open mouth appearance, midface hypoplasia, prominent/large ears; 11y-no cardiac abnormalities; tall stature, scoliosis, pectus carinatum, slender limbs, joint laxity, no camptodactyly, no arachnodactyly 1 2 Johan den Dunnen
00266198 Fam2Pat6 PubMed: Fiordaliso 2019 - M no Slovakia (Slovak Republic) - - 0 - - ? developmental delay, intellectual disability; ADHD/aggressive behavior; hypotonia; no long face, short philtrum, open mouth appearance, midface hypoplasia, prominent/large ears; 5y-no cardiac abnormalities; tall stature, no scoliosis, pectus carinatum, no slender limbs, no joint laxity, no camptodactyly, no arachnodactyly 1 1 Johan den Dunnen
00266199 Pat7 PubMed: Hackmann 2016, PubMed: Fiordaliso 2019 2-generation family, 1 affected, carrier mother M no Germany - - 0 - - ? developmental delay, intellectual disability; no ADHD/aggressive behavior; hypotonia; long face, short philtrum, open mouth appearance, midface hypoplasia, prominent/large ears; 21y-mitral valves prolapse with the minimal mitral regurgitation; tall stature, scoliosis, pectus carinatum, slender limbs, joint laxity, camptodactyly, arachnodactyly 1 1 Johan den Dunnen
00266200 Pat8 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - 0 - - ? developmental delay, intellectual disability; no ADHD/aggressive behavior; hypotonia; ; 7y-history of ventricular septal defect; tall stature, no scoliosis, no pectus, slender limbs, joint laxity, camptodactyly, arachnodactyly 1 1 Johan den Dunnen
00266201 Pat9 PubMed: DDDS 2017, PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - 0 - - ? developmental delay, intellectual disability; ADHD/aggressive behavior; hypotonia; long face, short philtrum, no open mouth appearance, midface hypoplasia, prominent/large ears; 10y-no cardiac abnormalities; tall stature, no scoliosis, pectus excavatum, slender limbs, joint laxity, no camptodactyly, arachnodactyly; hypospadias, unilateral undescended testis; central obesity 1 1 Johan den Dunnen
00266202 Pat10 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - 0 - - ? developmental delay, intellectual disability; ADHD/aggressive behavior; hypotonia; long face, no short philtrum, no open mouth appearance, no midface hypoplasia, prominent/large ears; 16y-no cardiac abnormalities; tall stature, no scoliosis, no pectus, slender limbs, joint laxity, no camptodactyly, arachnodactyly; hypospadias/micropenis; central obesity 1 1 Johan den Dunnen
Legend