All individuals with variants in gene CTNND1

24 entries on 1 page. Showing entries 1 - 24.
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00110511 S3 - - F - Brazil - - - - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; -HP:0000316; HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; HP:0000377; -HP:0001537/HP:0000023; HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; ?HP:0000834; -HP:0002023; ?HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; HP:0010116 1 1 Sanne Savelberg
00110516 R1a - - M - Netherlands Dutch - - - - BCDS -HP:0002342; HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; -HP:0000656; -HP:0000579; HP:0009743; HP:0009755; HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; 1 1 Sanne Savelberg
00110517 R1b - - F - Netherlands Dutch - - - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; ?HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; 1 1 Sanne Savelberg
00110518 R1c - - F - Netherlands Dutch - - - - BCDS -HP:0002342; -HP:0000337; HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; 1 1 Sanne Savelberg
00110519 R1d - - F - Netherlands Dutch - - - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; 1 1 Sanne Savelberg
00110520 R1e - - F - Netherlands Dutch - - - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; HP:0012905; HP:0030001; HP:0000656; -HP:0000579; HP:0009743; HP:0009755; -HP:0000202; HP:0000668; HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; HP:0000834; HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; 1 1 Sanne Savelberg
00110521 U3a - - F - Netherlands Dutch - - - - BCDS -HP:0002342; -HP:0000337; -HP:0009890; HP:0000316; -HP:0012905; -HP:0030001; HP:0000656; -HP:0000579; HP:0009743; -HP:0009755; HP:0000202; HP:0000668; ?HP:0000696; HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; 1 1 Sanne Savelberg
00110522 U3b - - M - Netherlands Dutch - - - - BCDS -HP:0002342; HP:0000337; -HP:0009890; -HP:0000316; -HP:0012905; -HP:0030001; -HP:0000656; -HP:0000579; -HP:0009743; -HP:0009755; -HP:0000202; -HP:0000668; -HP:0000696; -HP:0011077; -HP:0010296; -HP:0000232; -HP:0002710; -HP:0000303; -HP:0000377; -HP:0001537/HP:0000023; -HP:0030084; -HP:0001159; -HP:0012385; -HP:0008070; -HP:0001792; -HP:0000951; -HP:0000078; -HP:0000834; -HP:0000107/HP:0000126; -HP:0002023; -HP:0000821; -HP:0000453/HP:0000452; -HP:0045005; -HP:0012126; 1 1 Sanne Savelberg
00248857 Fam1Pat1 Journal: Alharatani 2019 2-generation family, affected mother/daugther F - - - - - - - ? no cleft lip/palate; high-arched palate; thin upper lip; choanal atresia; no ear anomaly; wide nasal bridge; broad nasal tip; mid-facial hypoplasia; mandibular prognathism; no brachycephaly; no narrow, upslanted palpebral fissures; no hooded eyelids; no telecanthus; high arched eyebrows; thin lateral eyebrows; mild ectropion; distichiasis; no ankyloblepahron; hypodontia; delayed dentition; abnormal crown form; ventricular septal defect; no tetralogy of Fallot; atrial septal defect or patent foramen ovale; mitral valve stenosis; no PS or coarctation aorta; no patent ductus arteriosus; hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; no aggressive behaviour; no anomalies hands; no anomalies feet; no voice anomalies; skeletal anomalies, scoliosis; no short stature; no cancer; restrictive lung disease 1 2 Johan den Dunnen
00248858 Fam1Pat2 Journal: Alharatani 2019 daughter F - - - - - - - ? no cleft lip/palate; high-arched palate; thin upper lip; choanal atresia; ear anomaly; wide nasal bridge; no broad nasal tip; mid-facial hypoplasia; no mandibular prognathism; brachycephaly; no narrow, upslanted palpebral fissures; no hooded eyelids; no telecanthus; high arched eyebrows; no thin lateral eyebrows; no mild ectropion; distichiasis; ankyloblepahron; hypodontia; delayed dentition; abnormal crown form; ventricular septal defect; no tetralogy of Fallot; atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; patent ductus arteriosus; no hypoplastic aortic arch;; attention deficit hyperactivity disorder; developmental delay/learning difficulty; no speech delay/no language delay; aggressive behaviour; no anomalies hands; anomalies feet; voice anomalies; no skeletal anomalies; no short stature; no cancer; partial agenesis corpus callosum 1 1 Johan den Dunnen
00248859 Fam2Pat3 Journal: Alharatani 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? cleft lip/palate; high-arched palate; no thin upper lip; no choanal atresia; ear anomaly; wide nasal bridge; broad nasal tip; mid-facial hypoplasia; mandibular prognathism; no brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; no high arched eyebrows; no thin lateral eyebrows; no mild ectropion; no distichiasis; no ankyloblepahron; hypodontia; no delayed dentition; abnormal crown form; no ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; autism spectrum disorder; attention deficit hyperactivity disorder; developmental delay/learning difficulty; speech delay/language delay; aggressive behaviour; anomalies hands; anomalies feet; no voice anomalies; skeletal anomalies; no short stature; no cancer; velo-pharyngeal insufficiency, early onset puberty, bowel problems 2 1 Johan den Dunnen
00248860 Fam3Pat4 Journal: Alharatani 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? no cleft lip/palate; no high-arched palate; no thin upper lip; no choanal atresia; ear anomaly; no wide nasal bridge; no broad nasal tip; no mid-facial hypoplasia; no mandibular prognathism; brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; no high arched eyebrows; no thin lateral eyebrows; mild ectropion; no distichiasis; no ankyloblepahron; hypodontia; delayed dentition; no abnormal crown form; ventricular septal defect; no tetralogy of Fallot; atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; autism spectrum disorder; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; no aggressive behaviour; no anomalies hands; anomalies feet; no voice anomalies; skeletal anomalies; no short stature; no cancer; joint laxity 1 1 Johan den Dunnen
00248861 Fam4Pat5 Journal: Alharatani 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? no cleft lip/palate; no high-arched palate; no thin upper lip; no choanal atresia; no ear anomaly; no wide nasal bridge; no broad nasal tip; no mid-facial hypoplasia; no mandibular prognathism; no brachycephaly; no narrow, upslanted palpebral fissures; no hooded eyelids; no telecanthus; no high arched eyebrows; thin lateral eyebrows; mild ectropion; distichiasis; no ankyloblepahron; hypodontia; delayed dentition; abnormal crown form; no ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; no aggressive behaviour; no anomalies hands; no anomalies feet;; no skeletal anomalies; no short stature; no cancer; 1 1 Johan den Dunnen
00248862 Fam5Pat6 Journal: Alharatani 2019 2-generation family, affected mother/son M - - - - - - - ? cleft lip/palate; no high-arched palate; no thin upper lip; no choanal atresia; ear anomaly; wide nasal bridge; no broad nasal tip; mid-facial hypoplasia; no mandibular prognathism; no brachycephaly; no narrow, upslanted palpebral fissures; no hooded eyelids; no telecanthus; high arched eyebrows; thin lateral eyebrows; mild ectropion; no distichiasis; no ankyloblepahron; no hypodontia; no delayed dentition; no abnormal crown form; no ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; no aggressive behaviour; anomalies hands; anomalies feet; voice anomalies; skeletal anomalies, scoliosis; short stature; no cancer; hypothyroid 1 2 Johan den Dunnen
00248863 Fam5Pat7 Journal: Alharatani 2019 son F - - - - - - - ? cleft lip/palate; high-arched palate; thin upper lip; no choanal atresia; ear anomaly; wide nasal bridge; broad nasal tip; mid-facial hypoplasia; no mandibular prognathism; no brachycephaly; narrow, upslanted palpebral fissures; no hooded eyelids; no telecanthus; high arched eyebrows; thin lateral eyebrows; no mild ectropion; distichiasis; ankyloblepahron; no hypodontia; no delayed dentition; abnormal crown form; no ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; no aggressive behaviour; anomalies hands; anomalies feet; no voice anomalies; no skeletal anomalies; no short stature; no cancer; 1 1 Johan den Dunnen
00248864 Fam6Pat8 Journal: Alharatani 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? no cleft lip/palate; high-arched palate; thin upper lip; choanal atresia; ear anomaly; wide nasal bridge; broad nasal tip; mid-facial hypoplasia; mandibular prognathism; no brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; no telecanthus; high arched eyebrows; thin lateral eyebrows; no mild ectropion; no distichiasis; no ankyloblepahron; hypodontia; abnormal crown form; no ventricular septal defect; tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; no aggressive behaviour; anomalies hands; no anomalies feet; no voice anomalies; no skeletal anomalies; no short stature; ovarian dysgerminoma; macroglossia 1 1 Johan den Dunnen
00248865 Fam7Pat9 Journal: Alharatani 2019 2-generation family, 2 affected brothers, unaffected carrier father M - - - - - - - ? cleft lip/palate; no high-arched palate; thin upper lip; no choanal atresia; ear anomaly; wide nasal bridge; broad nasal tip; no mid-facial hypoplasia; no mandibular prognathism; no brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; no high arched eyebrows; thin lateral eyebrows; no mild ectropion; no distichiasis; ankyloblepahron; abnormal crown form; no ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch;; no attention deficit hyperactivity disorder; no developmental delay/no learning difficulty; no speech delay/no language delay; aggressive behaviour; no anomalies hands; no anomalies feet; no voice anomalies; no skeletal anomalies; no short stature; no cancer; 1 2 Johan den Dunnen
00248866 Fam7Pat10 Journal: Alharatani 2019 brother M - - - - - - - ? cleft lip/palate; no thin upper lip; no choanal atresia; ear anomaly; wide nasal bridge; broad nasal tip; no mid-facial hypoplasia; no mandibular prognathism; no brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; no high arched eyebrows; thin lateral eyebrows; no mild ectropion; no distichiasis; no ankyloblepahron; no ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; developmental delay/learning difficulty; speech delay/language delay; aggressive behaviour; no anomalies hands; no anomalies feet; no voice anomalies; no skeletal anomalies; no short stature; no cancer; 1 1 Johan den Dunnen
00248867 Fam8Pat11 Journal: Alharatani 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? cleft lip/palate; no high-arched palate; thin upper lip; choanal atresia; ear anomaly; wide nasal bridge; broad nasal tip; mid-facial hypoplasia; mandibular prognathism; brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; high arched eyebrows; thin lateral eyebrows; no mild ectropion; no distichiasis; no ankyloblepahron; hypodontia; delayed dentition; abnormal crown form; ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; PS or coarctation aorta; no patent ductus arteriosus; hypoplastic aortic arch; autism spectrum disorder; attention deficit hyperactivity disorder; developmental delay/learning difficulty; speech delay/language delay; no aggressive behaviour; anomalies hands; no anomalies feet; voice anomalies; skeletal anomalies; short stature; no cancer; cryptorchidism 1 1 Johan den Dunnen
00248868 Fam9Pat12 Journal: Alharatani 2019 2-generation family, 2 affected twin brothers, unaffected non-carrier parents M - - - - - - - ? cleft lip/palate; high-arched palate; thin upper lip; no choanal atresia; no ear anomaly; wide nasal bridge; no broad nasal tip; mid-facial hypoplasia; no mandibular prognathism; no brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; high arched eyebrows; no thin lateral eyebrows; no mild ectropion; no distichiasis; no ankyloblepahron; no hypodontia; no delayed dentition; abnormal crown form; ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; developmental delay/learning difficulty; no speech delay/no language delay; no aggressive behaviour; anomalies hands; anomalies feet; no voice anomalies; no skeletal anomalies; no short stature; no cancer; coronal hypospadias 1 2 Johan den Dunnen
00248869 Fam9Pat13 Journal: Alharatani 2019 brother M - - - - - - - ? cleft lip/palate; high-arched palate; no thin upper lip; no choanal atresia; no ear anomaly; wide nasal bridge; no broad nasal tip; mid-facial hypoplasia; mandibular prognathism; no brachycephaly; narrow, upslanted palpebral fissures; hooded eyelids; telecanthus; high arched eyebrows; no thin lateral eyebrows; no mild ectropion; no distichiasis; no ankyloblepahron; hypodontia; delayed dentition; no abnormal crown form; no ventricular septal defect; no tetralogy of Fallot; no atrial septal defect or patent foramen ovale; no no atrial septal defect or patent foramen ovale; no PS or coarctation aorta; no patent ductus arteriosus; no hypoplastic aortic arch; no autism spectrum disorder; no attention deficit hyperactivity disorder; developmental delay/learning difficulty; no speech delay/no language delay; no aggressive behaviour; anomalies hands; anomalies feet; no voice anomalies; no skeletal anomalies; no short stature; no cancer; 1 1 Johan den Dunnen
00248870 Fam6 PubMed: Ghoumid 2017 2-generation family, 1 affected, unaffected carrier father M - - - - - - - BCDS cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; syndactyly (1/2); no anal atresia; no neural tube defect; no hypothyroidism 1 1 Johan den Dunnen
00248871 Fam7 PubMed: Ghoumid 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - BCDS cleft lip/palate; eyelid anomalies ectropion, euryblepharon, lagophthalmy, distichiasis; hair anomalies; conical teeth; tooth agenesis; no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; hypothyroidism 1 1 Johan den Dunnen
00248872 Fam8 PubMed: Ghoumid 2017 2-generation family, affected mother/son F;M - - - - - - - BCDS cleft lip/palate (1/2); eyelid anomalies ectropion (2/2), euryblepharon (1/2), lagophthalmy (1/2), distichiasis (1/2); hair anomalies (1/2); conical teeth (2/2); tooth agenesis (2/2); no nail dysplasia; no vertex aplasia; no choanal atresia; no syndactyly; no anal atresia; no neural tube defect; no hypothyroidism 1 2 Johan den Dunnen
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