All individuals with variants in gene ASXL1

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00117884 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117885 - PubMed: Hoischen 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117886 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - M - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117887 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117888 - PubMed: Hoischen 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117889 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00117890 - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - BOPS - 1 1 Gerard C.P. Schaafsma
00163907 - - - M - (Germany) - - 0 - - - HP:0001263 (Global developmental delay) 1 1 IMGAG
00180149 29286531-Pat01 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? 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 - - - - 0 - - BOPS - 1 1 Cristina Gervasini
00207348 - - - M - Italy - - 0 - - BOPS - 1 1 Cristina Gervasini
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