All individuals with variants in gene ASXL1

21 entries on 1 page. Showing entries 1 - 21.
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00117884 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - - - - BOPS - 1 1 Gerard C.P. Schaafsma
00117885 - PubMed: Hoischen 2011 - F - - - - - - - BOPS - 1 1 Gerard C.P. Schaafsma
00117886 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - M - - - - - - - BOPS - 1 1 Gerard C.P. Schaafsma
00117887 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - - - - BOPS - 1 1 Gerard C.P. Schaafsma
00117888 - PubMed: Hoischen 2011 - F - - - - - - - BOPS - 1 1 Gerard C.P. Schaafsma
00117889 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - - - - BOPS - 1 1 Gerard C.P. Schaafsma
00117890 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - - - - BOPS - 1 1 Gerard C.P. Schaafsma
00163907 - - - M - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00180149 29286531-Pat01 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), intrauterine growth retardation (HP:0001511), severe failure to thrive (HP:0001525), microcephaly (HP:0000252), severe global developmental delay (HP:0011344), atrial septum defect (HP:0001631), sensorineural hearing impairment (HP:0000407), myopia (HP:0000545), facial dysmorphism: bitemporal narrowing (HP:0000341), sparse hair (HP:0008070). 1 1 Johan den Dunnen
00207345 - - - M - - - - - - - BOPS - 1 1 Cristina Gervasini
00207348 - - - M - Italy - - - - - BOPS - 1 1 Cristina Gervasini
00292905 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00292906 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 13 Mohammed Faruq
00292907 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 17 Mohammed Faruq
00302963 Pat8 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, unclassified; age onset unknown 1 1 Johan den Dunnen
00302965 Pat10 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, unclassified; age onset unknown 1 1 Johan den Dunnen
00307718 UK10K_FINDWGA5411037 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - - - - ID - 1 1 Johan den Dunnen
00375661 Pat69 PubMed: Srivastava 2014 - - - United States - - - - - ? intellectual disability/developmental delay; decreased muscle bulk, broad-based gait; hyper-reflexia; self-injurious behavior; MRI brain normal 1 1 Johan den Dunnen
00436295 Pat3 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - ? synophrys; depressed broad nasal bridge,high palate,widely spaced teeth; developmental delay, intellectual disability; autistic like, aggression; seizures, hirsutism, major eye malformation; no failure to thrive; weight 88th, length 11th, OFC 25-50th; no short stature; no microcephaly; motor delay; speech delay; autism spectrum disorder; behavioral problems; seizures; no hypertonia; hypotonia; no brachycephaly; no long curly eyelashes; 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; widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; hirsutism; no hairline; no cutis marmorata; no myopia; strabismus , exotropia; 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; no gastroesophageal reflux; 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 moderately small optic nerves and chiasm, mild diffuse thinning of the corpus callosum, mild prominence of the left lateral ventricle, likely reflecting mild left-sided periventricular white matter volume loss or hypogenesis. 4. Mildly small pons.; ECG normal 1 1 Johan den Dunnen
00440373 PED2241.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00466058 ASXL1_01 Unpublished healthy mother without the presence of the variant, father not available for molecular testing F no (Mexico) Mexican - - - - BOPS hirsutism, broad forehead, arched eyebrows, synophrys, exophthalmos, prominent and wide philtrum, thick lips, dental malalignment and retrognathia 1 1 Miriam Erandi Reyna-Fabián
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