All individuals with variants in gene ASXL3

20 entries on 1 page. Showing entries 1 - 20.
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00150168 26539891-FamHOU2124PatBAB5481 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected carrier parents M yes Turkey - - - - - ? microcephaly, cryptorchidism, inguinal hernia, developmental delay, seizures, intellectual disability, diffuse cortical atrophy, gastroesophageal reflux 1 1 Johan den Dunnen
00288217 Pat27 PubMed: Lee 2019 - - - United States - - - - - ? decreased body weight, short stature, failure to thrive, relative macrocephaly, hypertelorism, bilateral ptosis, low-set, posteriorly rotated ears, petechiae, scalp hair loss, curly hair, brittle scalp hair, hypertonia, muscular hypotonia, increased laxity of fingers, global developmental delay, delayed gross motor development, periventricular leukomalacia, poor suck 1 1 Johan den Dunnen
00291948 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 25 Mohammed Faruq
00314869 Trio32 PubMed: Zhu 2015 - F - United States - - - - - ? Intellectual diability, microcephaly, mild to moderate hypotonia, hypermotoric. 1 1 Johan den Dunnen
00320153 - - - M - - - - - - - ? Ataxia (HP:0001251); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Myoclonus (HP:0001336); Absent speech (HP:0001344) 1 1 IMGAG
00375648 Pat31 PubMed: Srivastava 2014 - - - United States - - - - - ? intellectual disability/developmental delay; dysarthria; hypotonia; stereotyped behavior; MRI brain hypomyelination, cerebellar atrophy 1 1 Johan den Dunnen
00386539 186899 - - F ? - - - - - - BRPS Focal-onset seizure, Seizure, Intellectual disability, Autistic behavior 1 1 Andreas Laner
00401295 033P - - M no Spain - - - - - BRPS - 1 1 Alejandro Brea-Fernández
00401643 217P - - M no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00436301 Pat13 PubMed: Yuan 2019 - F - - - - - - - ? no synophrys; depressed nasal bridge, high palate; developmental delay, intellectual disability; gastroesophageal reflux; failure to thrive; weight <2nd, length 3rd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; no autism spectrum disorder; no seizures; hypertonia; no hypotonia; no brachycephaly; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned mouth; no cleft lip/palate; no widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; no hirsutism; no hairline; no cutis marmorata; no strabismus; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; gastroesophageal reflux; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain cerebellar tonsillar ectopy, o/w normal; ECG patent foramen ovale vs atrial septal defect;, o/w normal 1 1 Johan den Dunnen
00453443 patient {PMID:Wayhelova 2019:31180560 2-generation family, 1 affected, unaffected non carrier parents F - Czech Republic white - - - - DD HP:0001252, HP:0011968, HP:0001249, HP:0000252, HP:0001270, HP:0000271, HP:0000486, HP:0000174, HP:0001760, HP:0000750, HP:0000729 1 1 Marketa Wayhelova
00458248 - - - M - - (not applicable) white - - - - NDD HP:0001513, HP:0032867, HP:0001256, HP:0001270, HP:0000248, HP:0007703, HP:0000855, HP:0007429, HP:0000956, HP:0410278 1 1 Marketa Wayhelova
00467276 CMH079 PubMed: Soden 2014 family, 1 affected - - United States - - - - - ? - 1 1 Johan den Dunnen
00468657 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468658 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468659 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468660 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468661 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468662 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468663 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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