All individuals with variants in gene CHD8

68 entries on 1 page. Showing entries 1 - 68.
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00050620 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child M - United Kingdom (Great Britain) - - - Decipher - ? autism with high cognitive abilities, specific learning disability, small chin 1 2 Johan den Dunnen
00111394 S_063 PubMed: Popp 2017, Journal: Popp 2017 - F - - - - - - - autism Mild ID, wide ventricles, constipation, social difficulties 1 1 Bernt Popp
00144674 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Tall stature (HP:0000098); Autism (HP:0000717); Stereotypy (HP:0000733) 1 1 IMGAG
00147124 30631761-Pat47_S3 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, no epilepsy, obesity, ADHD 1 1 Joonhong Park
00168115 - PubMed: Du 2018 - F - China - - - - - IDDAM;AUTS18 - 1 1 Fei Li
00276353 159323 - - M ? - - - - - - DD developmental delay, in particular language. behaviour, stereotypes, bodylenght >97th percentile / HPO´s: Tall stature; Behavioral abnormality; Stereotypy; Delayed speech and language development; Global developmental delay 1 1 Andreas Laner
00290975 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 73 Mohammed Faruq
00290976 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303959 - - - M - - - - - - - ? Autism (HP:0000717); Global developmental delay (HP:0001263); Macrocephaly (HP:0000256) 1 1 IMGAG
00315050 GDB1281 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00320150 - - - M - - - - - - - ? Macrocephaly (HP:0000256); Autism (HP:0000717); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Sleep disturbance (HP:0002360); Cognitive impairment (HP:0100543) 1 1 IMGAG
00326939 CM1-1136 PubMed: Sadler 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00326940 CM1-9001 PubMed: Sadler 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00326941 CM1-OPBG-1 PubMed: Sadler 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00412455 Pat4 PubMed: Velmans 2012 - M - - - - - - - NDD macrocephaly, OFC Z+3.3; no dolichocephaly; large forehead; epicanthal folds; no deep-set eyes; no prominent nasolabial folds; no full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; 23m-walk; developmental speech delay (after regression); 15 months; developmental regression; intellectual disability; autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; muscular hypotonia; no ADHD; stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; no cerebral cysts; delayed myelination; constipation; no gastroesophageal reflux; no vomiting; mild left eye strabismus, hypertelorism, 1d-polycythemia 1 1 Johan den Dunnen
00414700 199650 - - F no Germany - - - - - IDDAM;AUTS18 Obesity, Tall stature, Neurodevelopmental delay, Obsessive-compulsive trait, Impaired continence, Anxiety 1 1 Andreas Laner
00415217 203567 - - F no Germany - - - - - IDDAM;AUTS18 Intellectual disability, Delayed speech and language development, Tall stature, Obesity, Precocious puberty, Global developmental delay 1 1 Andreas Laner
00427999 A093 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00432983 198766 - - F no Germany - - - - - IDDAM;AUTS18 Global developmental delay, Hypotonia, Cachexia, Muscle weakness, Ataxia 1 1 Andreas Laner
00433659 - - - - - - - - - - - IDDAM;AUTS18 intellectual disability, developmental delay, tall stature 1 1 Marketa Wayhelova
00438385 Pat104 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0001249 intellectual disability 1 1 Johan den Dunnen
00440368 PED2102.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00449811 - - - F - - (not applicable) white - - - - autism HP:0000717, HP:0007018, HP:0010864, HP:0000750, HP:0001250 1 1 Marketa Wayhelova
00449870 - - - M - - - - - - - SCZD Autism, Tall stature, Macrocephaly, Schizophrenia 1 1 Camille Verebi
00450264 COG0026 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; mild intellectual disability; 1 1 Johan den Dunnen
00450265 COG0393 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; moderate intellectual disability; 1 1 Johan den Dunnen
00450266 COG0666 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; severe intellectual disability; 1 1 Johan den Dunnen
00450267 COG1528 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; mild intellectual disability; 1 1 Johan den Dunnen
00450268 COG1723 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; mild intellectual disability; 1 1 Johan den Dunnen
00450269 COG0159 PubMed: Tatton-Brown 2017 family, affected mother/child - - United States - - - - - ? overgrowth head, overgrowth height; mild intellectual disability; 1 2 Johan den Dunnen
00450270 COG0663 PubMed: Tatton-Brown 2017 family, affected mother/child - - United States - - - - - ? overgrowth head; moderate intellectual disability; 1 2 Johan den Dunnen
00450271 COG0013 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; moderate intellectual disability; 1 1 Johan den Dunnen
00450272 COG0083 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; Intellectual disability; 1 1 Johan den Dunnen
00450273 COG0270 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; mild intellectual disability; 1 1 Johan den Dunnen
00450274 COG0682 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; Intellectual disability; 1 1 Johan den Dunnen
00450275 COG1977 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; moderate intellectual disability; 1 1 Johan den Dunnen
00452066 - - - F - - (not applicable) white - - - - macrocephaly HP:0000256, HP:0005490, HP:0001520 1 1 Marketa Wayhelova
00453288 S00061 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? autism 1 1 Johan den Dunnen
00453289 S00248 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453290 S00136 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? autism 1 1 Johan den Dunnen
00453291 S00156 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453292 S03375 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? intellectual disability 1 1 Johan den Dunnen
00453293 S00216 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453294 S00244 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453295 S03401 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? intellectual disability 1 1 Johan den Dunnen
00453296 S00221 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453297 S00009 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? autism 1 1 Johan den Dunnen
00453298 S00225 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453299 S00221 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453300 S00069 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? autism 1 1 Johan den Dunnen
00453301 S03337 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? intellectual disability 1 1 Johan den Dunnen
00453302 S00081 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? autism 1 1 Johan den Dunnen
00453303 S00138 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? autism 1 1 Johan den Dunnen
00453304 S00234 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? schizophrenia 1 1 Johan den Dunnen
00453305 S03337 PubMed: Merner 2016 analysis CHD8 gene in 142 autism, 143 schizophrenia and 94 intellectual disability cases - - United States - - - - - ? intellectual disability 1 1 Johan den Dunnen
00454825 Pat1 PubMed: Dekker 2023 2-generation family, 1 affected, healthy carrier mother M no Netherlands - - - - - NDD see paper; ..., intellectual disability, autism spectrum disorder, macrocephaly; MRI brain normal; mother healthy but macrocephalic (OFC 61.2cm +3.5 SD) 1 1 Johan den Dunnen
00455157 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - SCZD - 1 1 Johan den Dunnen
00455158 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - SCZD - 1 1 Johan den Dunnen
00455159 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - SCZD - 1 2 Johan den Dunnen
00455864 Pat104 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00464294 R072 - - M no China Chinese - - - - ID Macrosomia, hypotonia, fine motor/gross motor/language developmental delay, intellectual disability. 1 1 Xiaomei Luo
00466419 - - - M - - (not applicable) - - - - - NDD HP:0000717, HP:0000729, HP:0007018, HP:0000708, HP:0001256, HP:0002342 1 1 Marketa Wayhelova
00466882 patient - 2-generation family, affected mother/2 sons M - Germany - - - - - ? - 1 3 Harald Ludwig
00466883 family - brother M - Germany - - - - - ? - 1 1 Harald Ludwig
00466884 family - mother F - Germany - - - - - ? - 1 1 Harald Ludwig
00467742 Pat14 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - NDD see paper; ..., moderate intellectual developmental disorder; 12m-walk; 9y-first words; speech sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder, prior violent behavior; no seizures; narrow ears, mild synorphrys; normal extremities; no postnatal growth retardation; obesity during chilhood 1 1 Johan den Dunnen
00471323 CB-DYS-194 PubMed: Zech 2020 patient - - - - - - - - DYT combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); generalized dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
00471324 CB-DYS-227 PubMed: Zech 2020 patient - - - - - - - - DYT combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); generalized dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
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