All individuals with variants in gene CNTN6

25 entries on 1 page. Showing entries 1 - 25.
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00016130 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016131 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016132 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016134 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016275 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - CRC familial colorectal cancer 1 1 Sukanya Horpaopan
00207899 LAS PubMed: Vadgama 2019, Journal: Vadgama 2019 LAS: Proband diagnosed with ALS SUS: Unaffected MZ twin - - (United Kingdom (Great Britain)) - - - - - ALS LAS: proband diagnosed with ALS at the age of 67y; died at 71y. SUS: unaffected MZ twin aged 75y 1 2 Nirmal Vadgama
00222797 NCH1 PubMed: Repnikova 2019 - M - United States - - - - - ADHD pervasive developmental disorder, autism spectrum disorder, attention deficit hyperactivity disorder, defiance; poor weight gain, short stature; mother has anxiety, depression 1 1 Elena Repnikova
00222798 NCH2 PubMed: Repnikova 2019 - F - United States - 00y00m10d - - - ? unknown neurodevelopmental features (early death); abnormal EEG following cardiogenic shock, oligohydramnios renal insufficiency, tricuspid and pulmonary atresia, hypoplastic right ventricle; father: Asperger's syndrome; paternal great great aunt and her child: ID, DD 1 1 Elena Repnikova
00222799 NCH3 PubMed: Repnikova 2019 - F - United States - - - - - autism autism spectrum disorder, generalized anxiety disorder; mother: anxiety, depression 1 1 Elena Repnikova
00222800 CMH1 PubMed: Repnikova 2019 - M - United States - 11d - - - ? unknown neurodevelopmental features (early death); hyponotia, prominent forehead with bossing, low set ears, flat nasal bridge, hypertelorism; 11d deceased 1 1 Elena Repnikova
00222801 CMH2 PubMed: Repnikova 2019 - M - United States - - - - - DD global developmental delay, non-verbal; microcephaly, delayed myelination, frontal narrowing, large ears with hypoplastic earlobes, low weight, scoliosis; Maternal half-brother: developmental delay, learning disabilities, non-verbal 1 1 Elena Repnikova
00222802 CMH3 PubMed: Repnikova 2019 - M - United States - 16y - - - ? developmental delay, autism spectrum disorder, seizures; hypotonia, failure to thrive; 16y-deceased 1 1 Elena Repnikova
00222803 NCH4 PubMed: Repnikova 2019 - M - United States - - - - - ? attention deficit hyperactivity disorder, developmental delay, anxiety; Tetralogy of Fallot, pulmonary atresia, peripheral pulmonary artery stenosis, hypospadias 1 1 Elena Repnikova
00222804 NCH5 PubMed: Repnikova 2019 - F - United States - - - - - ? developmental delay; microcephaly, hypotonia, atrial septal defect, atrial septal defect, pulmonary valve and artery stenosis, congenital bronchomalacia, asthma, hypertelorism, short and upslanting palpebral fissures, tall forehead, flat nasal bridge, short 4th/5th toes 1 1 Elena Repnikova
00222805 NCH6 PubMed: Repnikova 2019 - F - United States - - - - - ? developmental delay 1 1 Elena Repnikova
00222806 NCH7 PubMed: Repnikova 2019 - F - United States - - - - - ? attention deficit hyperactivity disorder, depression, intellectual disability, Parkinson's disease 1 1 Elena Repnikova
00222807 NCH8 PubMed: Repnikova 2019 - M - United States - - - - - ? seizures, speech delay; 2-3 toe syndactyly, clinodactyly 1 1 Elena Repnikova
00222808 NCH9 PubMed: Repnikova 2019 - M - United States - - - - - ? autism spectrum disorder, mixed receptive expressive language disorder; father: dyslexia,, mother: unaffected 1 1 Elena Repnikova
00222809 NCH10 PubMed: Repnikova 2019 - F - United States - - - - - ? Tourette syndrome, developmental regression, autism spectrum disorder, subjective vision loss; progressive muscle weakness, dysarthria, ataxia, joint pain, joint hypermobility, HLA-B27+, scoliosis, mitral valve prolapse; high forehead, wide face; parents: unaffected, paternal first cousin: attention deficit hyperactivity disorder, dyslexia, paternal aunt: attention deficit hyperactivity disorder, paternal great aunt: intellectual disability 1 1 Elena Repnikova
00222810 NCH11 PubMed: Repnikova 2019 - M - United States - - - - - ? developmental delay, moderate intellectual disability, obsessive–compulsive disorder, apraxia; notched front teeth, prominent ears; paternal family members with bipolar disease 1 1 Elena Repnikova
00222811 NCH12 PubMed: Repnikova 2019 - M - United States - - - - - ? pulmonary atresia with intact ventricular septum; mother: attention deficit hyperactivity disorder 1 1 Elena Repnikova
00222812 NCH13 PubMed: Repnikova 2019 - M - United States - - - - - ? attention deficit hyperactivity disorder, autism spectrum disorder, developmental delay; Coffin-Lowry syndrome, hypopituitarism, short stature, low weight; father: attention deficit hyperactivity disorder, learning disabilities 1 1 Elena Repnikova
00222813 CMH4 PubMed: Repnikova 2019 - M - United States - - - - - ? attention deficit hyperactivity disorder, autism spectrum disorder, developmental delay; mother: learning disabilities, maternal half-brother: attention deficit hyperactivity disorder, maternal half-sister: history of learning disabilities, maternal aunt: learning disabilities 1 1 Elena Repnikova
00222814 CMH5 PubMed: Repnikova 2019 - M - United States - - - - - ? attention deficit hyperactivity disorder, developmental delay 1 1 Elena Repnikova
00222815 CMH6 PubMed: Repnikova 2019 - F - United States - - - - - ? renal Failure 1 1 Elena Repnikova
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