All individuals with variants in gene GGPS1

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00315946 Fam1Pat1 PubMed: Reghan Foley 2020 2-generation family, affected sister/brother, unaffected parents F - Ireland;Germany;Poland - - - - - ? sensorineural hearing loss; 11y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 18,025U/l; primary ovarian failure; failure to thrive 2 2 Johan den Dunnen
00315947 Fam1Pat2 PubMed: Reghan Foley 2020 brother M - Ireland;Germany;Poland - - - - - ? sensorineural hearing loss; 13y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 11,25U/l; failure to thrive 2 1 Johan den Dunnen
00315948 Fam2Pat3 PubMed: Reghan Foley 2020 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - ? sensorineural hearing loss; 15y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 6,641U/l; failure to thrive 2 1 Johan den Dunnen
00315949 Fam3Pat4 PubMed: Reghan Foley 2020 2-generation family, 3 affected sibs (2F, M), unaffected parents F - Morocco - - - - - ? sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 336U/l; primary ovarian failure; no failure to thrive 1 3 Johan den Dunnen
00315950 Fam3Pat5 PubMed: Reghan Foley 2020 brother M - Morocco - - - - - ? sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 4,9U/l; failure to thrive 1 1 Johan den Dunnen
00315951 Fam3Pat6 PubMed: Reghan Foley 2020 sister F - Morocco - - - - - ? sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 281U/l; primary ovarian failure; no failure to thrive 1 1 Johan den Dunnen
00315952 Fam4Pat7 PubMed: Reghan Foley 2020 2-generation family, 1 affected, unaffected parents F yes China Han - - - - ? sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 14,143U/l; primary ovarian failure uncertain due to age; failure to thrive 1 1 Johan den Dunnen
00315953 Fam5Pat8 PubMed: Reghan Foley 2020 2-generation family, 1 affected, unaffected parents M yes Algeria - - - - - ? sensorineural hearing loss; maximal recorded CK 1,6U/l 1 1 Johan den Dunnen
00315954 Fam6Pat9 PubMed: Reghan Foley 2020 2-generation family, 3 affected sibs (2F, M), unaffected parents M yes Morocco - - - - - ? sensorineural hearing loss; 12y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 3,633U/l; failure to thrive 1 3 Johan den Dunnen
00315955 Fam6Pat10 PubMed: Reghan Foley 2020 sister F yes Morocco - - - - - ? no sensorineural hearing loss; 11y-wheelchair bound; no respiratory insufficiency; no scoliosis; primary ovarian failure uncertain due to age; failure to thrive 1 1 Johan den Dunnen
00315956 Fam6Pat11 PubMed: Reghan Foley 2020 sister F yes Morocco - - - - - ? sensorineural hearing loss; ambulant; no respiratory insufficiency; no scoliosis; primary ovarian failure uncertain due to age; failure to thrive 1 1 Johan den Dunnen
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