All individuals with variants in gene NCKAP1

23 entries on 1 page. Showing entries 1 - 23.
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00104013 Vogelaar-513A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00104037 Vogelaar-760A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00307923 12DG1370 PubMed: Anazi 2017 family F - - - - - - - ID see paper; ..., tip-toe gait; intellectual disability; speech delay and language development; attention deficit hyperactivity disorder; hypertelorism; macrocephaly; tall stature 1 1 Johan den Dunnen
00320179 ?/Pat1 PubMed: Iossifov 2014, PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD autism spectrum disorder; no speech-language problems; no motor delay; no intellectual disability; repetitive behavior; aggressive behavior; depression; sleep disturbances; seizures; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; not tall; no overweight; no gastrointestinal disturbance; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320180 Pat2 PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD autism spectrum disorder; no speech-language problems; no motor delay; no intellectual disability; repetitive behavior; no aggressive behavior; attention-deficit hyperactivity disorder; depression; no self-injury behavior; sleep disturbances; no seizures; no epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; not tall; no overweight; no gastrointestinal disturbance; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320181 Pat3 PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD autism spectrum disorder; speech-language problems; no motor delay; attention-deficit hyperactivity disorder; no depression; no self-injury behavior; no seizures; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; not tall; no overweight; gastrointestinal disturbance; skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320182 Pat4 PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Saudi Arabia - - - - - NDD no autism; speech-language problems; motor delay; intellectual disability; repetitive behavior; aggressive behavior; attention-deficit hyperactivity disorder; no anxiety; no depression; obsessive behavior; no self-injury behavior; sleep disturbances; no seizures; no epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; not tall; no overweight; no gastrointestinal disturbance; no skeletal alterations; visual impairment; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320183 Pat5 PubMed: Guo 2020, Journal: Guo 2020 - M - France - - - - - NDD autism spectrum disorder; speech-language problems; motor delay; intellectual disability; repetitive behavior; aggressive behavior; obsessive behavior; no self-injury behavior; no sleep disturbances; seizures; epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; tall; no overweight; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320184 Pat6 PubMed: Guo 2020, Journal: Guo 2020 - M - United States - - - - - NDD autism spectrum disorder; speech-language problems; motor delay; learning disability; repetitive behavior; no aggressive behavior; no attention-deficit hyperactivity disorder; anxiety; no depression; no obsessive behavior; no self-injury behavior; no sleep disturbances; seizures; epilepsy; MRI brain abnormal; EEG brain abnormal; macrocephaly; no microcephaly; tall; obesity; gastrointestinal disturbance; skeletal alterations; visual impairment; hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320185 Pat7(IV1) PubMed: Guo 2020, Journal: Guo 2020 4-generation family, 5 affected (F, 4M) M - United States - - - - - NDD autism spectrum disorder; speech-language problems; motor delay; no intellectual disability; repetitive behavior; no aggressive behavior; no attention-deficit hyperactivity disorder; no anxiety; no depression; no obsessive behavior; no self-injury behavior; no sleep disturbances; no seizures; no epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; not tall; no overweight; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320186 Pat8(II1) PubMed: Guo 2020, Journal: Guo 2020 2-generation family, affected mather/son M - - - - - - - NDD no autism; speech-language problems; no motor delay; intellectual disability; no repetitive behavior; aggressive behavior; anxiety; no depression; no obsessive behavior; no self-injury behavior; no sleep disturbances; seizures; no epilepsy; MRI brain normal; EEG brain normal; no microcephaly; tall; overweight; no gastrointestinal disturbance; skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320187 Fam9Pat9(II1) PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - France - - - - - NDD speech-language problems; intellectual disability; aggressive behavior; anxiety; self-injury behavior; no seizures; no epilepsy; no macrocephaly; tall; no overweight; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 2 Johan den Dunnen
00320188 Fam9Pat10(II2) PubMed: Guo 2020, Journal: Guo 2020 brother M - Switzerland - - - - - NDD no autism; speech-language problems; motor delay; intellectual disability; no repetitive behavior; aggressive behavior; no attention-deficit hyperactivity disorder; no anxiety; no depression; no obsessive behavior; no self-injury behavior; sleep disturbances; no seizures; no epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no macrocephaly; not tall; obesity; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320189 Pat11(II1) PubMed: Guo 2020, Journal: Guo 2020 2-generation family, affected mother/son M - United States - - - - - NDD autism spectrum disorder; speech-language problems; motor delay; intellectual disability; repetitive behavior; aggressive behavior; attention-deficit hyperactivity disorder; no depression; obsessive behavior; no self-injury behavior; sleep disturbances; seizures; MRI brain abnormal; EEG brain normal; no microcephaly; tall; obesity; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 2 Johan den Dunnen
00320190 Pat12 PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - NDD autism spectrum disorder; no speech-language problems; motor delay; intellectual disability; repetitive behavior; no aggressive behavior; attention-deficit hyperactivity disorder; no anxiety; no obsessive behavior; no sleep disturbances; no seizures; no epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; gastrointestinal disturbance 1 1 Johan den Dunnen
00320191 Pat13 PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD autism spectrum disorder; speech-language problems; motor delay; repetitive behavior; no aggressive behavior; no attention-deficit hyperactivity disorder; no anxiety; no depression; no obsessive behavior; no self-injury behavior; sleep disturbances; no seizures; no epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; tall; no overweight; gastrointestinal disturbance; skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320192 ?/Pat14 PubMed: Iossifov 2014, PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDD autism spectrum disorder; no speech-language problems; no intellectual disability; attention-deficit hyperactivity disorder; depression; sleep disturbances; no seizures; no epilepsy; MRI brain normal; EEG brain normal; no macrocephaly; no microcephaly; not tall; no overweight; no gastrointestinal disturbance; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320193 Pat15(II1) PubMed: Guo 2020, Journal: Guo 2020 2-generation family, affected father/daughter F - Saudi Arabia - - - - - NDD speech-language problems; motor delay; intellectual disability; attention-deficit hyperactivity disorder; sleep disturbances; seizures; MRI brain normal; EEG brain normal; macrocephaly; no microcephaly; not tall; no overweight 1 1 Johan den Dunnen
00320194 Pat16 PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - NDD autistic features; no speech-language problems; motor delay; learning disability; no repetitive behavior; no aggressive behavior; no attention-deficit hyperactivity disorder; no anxiety; no depression; no obsessive behavior; no self-injury behavior; no sleep disturbances; seizures; MRI brain normal; EEG brain normal; not tall; no overweight; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no congenital heart defects 1 1 Johan den Dunnen
00320195 Pat17 PubMed: Guo 2020, Journal: Guo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD no autism; speech-language problems; motor delay; intellectual disability; no repetitive behavior; aggressive behavior; no attention-deficit hyperactivity disorder; anxiety; no depression; no obsessive behavior; no self-injury behavior; sleep disturbances; no seizures; no epilepsy; MRI brain normal; no macrocephaly; no microcephaly; not tall; no overweight; no gastrointestinal disturbance; no skeletal alterations; visual impairment; no hearing impairment; congenital heart defects 1 1 Johan den Dunnen
00320196 Pat18 PubMed: Guo 2020, Journal: Guo 2020 - - - United States - - - - - NDD - 1 1 Johan den Dunnen
00320197 Pat19 PubMed: Guo 2020, Journal: Guo 2020 - - - United States - - - - - NDD - 1 1 Johan den Dunnen
00320198 Pat20 PubMed: Guo 2020, Journal: Guo 2020 - - - United States - - - - - NDD - 1 1 Johan den Dunnen
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