All individuals with variants in gene GGPS1

28 entries on 1 page. Showing entries 1 - 28.
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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
00472225 - Verebi et al. (submitted) - F - France - - - - - ? Hearing impairment, Proximal muscle weakness in lower limbs, Elevated serum creatinine kinase 1 1 Camille Verebi
00474160 - PubMed: Rahmuni 2026 patient - - Morocco - - - - - MD - 1 1 Johan den Dunnen
00474163 Fam1Pat1 PubMed: Kaiyrzhanov 2022 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - MD see paper; ..., slow progressions; failure to thrive; sensorineural hearing loss; 1y6m-progressive muscle weakness; joint contractures; respiratory insufficiency; no cardiac involvement; 7y-loss ambulation; no progressive scoliosis; short stature; no hypotonia; muscular atrophy; no ataxia 1 3 Johan den Dunnen
00474164 Fam1Pat2 PubMed: Kaiyrzhanov 2022 sister F yes Iran - 11m - - - MD see paper; ..., 11m-deceased; slow progressions; sensorineural hearing loss; respiratory insufficiency; no cardiac involvement; no hypotonia 1 1 Johan den Dunnen
00474165 Fam1Pat3 PubMed: Kaiyrzhanov 2022 sister F yes Iran - - - - - MD see paper; ..., slow progressions; failure to thrive; sensorineural hearing loss; 1y6m-progressive muscle weakness; joint contractures; respiratory insufficiency; no cardiac involvement; 7y-loss ambulation; progressive scoliosis; short stature; no hypotonia; muscular atrophy; no ataxia 1 1 Johan den Dunnen
00474166 Fam2Pat4 PubMed: Kaiyrzhanov 2022 5-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - MD see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 4y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia 1 6 Johan den Dunnen
00474167 Fam2Pat5 PubMed: Kaiyrzhanov 2022 relative M yes Egypt - - - - - MD see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 2y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia 1 1 Johan den Dunnen
00474168 Fam2Pat6 PubMed: Kaiyrzhanov 2022 relative M yes Egypt - - - - - MD see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 1.2y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia 1 1 Johan den Dunnen
00474169 Fam2Pat7 PubMed: Kaiyrzhanov 2022 relative M yes Egypt - - - - - MD see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 1y6m-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia 1 1 Johan den Dunnen
00474170 Fam2Pat8 PubMed: Kaiyrzhanov 2022 relative M yes Egypt - - - - - MD see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 2y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia 1 1 Johan den Dunnen
00474171 Fam2Pat9 PubMed: Kaiyrzhanov 2022 relative F yes Egypt - 30y - - - MD see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 3y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia 1 1 Johan den Dunnen
00474172 Fam3Pat10 PubMed: Kaiyrzhanov 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - MD see paper; ..., slow progressions; no failure to thrive; sensorineural hearing loss; 7m-progressive muscle weakness; joint contractures; espiratory insufficiency; primary ovarian insufficiency; no cardiac involvement; progressive scoliosis; short stature; hypotonia; muscular atrophy; no ataxia 2 1 Johan den Dunnen
00474173 Fam4Pat11 PubMed: Kaiyrzhanov 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - MD see paper; ..., slow progressions; no failure to thrive; sensorineural hearing loss; 1y6m-progressive muscle weakness; joint contractures; espiratory insufficiency; no cardiac involvement; 9y-loss ambulation; progressive scoliosis; no short stature; hypotonia; muscular atrophy 1 1 Johan den Dunnen
00474174 ?;Fam5Pat12 PubMed: Tucker 2020, PubMed: Kaiyrzhanov 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Pakistan - - - - - MD see paper; ..., moderate progressions; no failure to thrive; no sensorineural hearing loss; no progressive muscle weakness; joint contractures; espiratory insufficiency; no primary ovarian insufficiency; no cardiac involvement; 11y-loss ambulation; progressive scoliosis; short stature; hypotonia; muscular atrophy; no ataxia 1 2 Johan den Dunnen
00474175 ?;Fam5Pat13 PubMed: Tucker 2020, , PubMed: Kaiyrzhanov 2022 brother M yes Australia - - - - - MD see paper; ..., slow progressions; failure to thrive; sensorineural hearing loss; 12y-progressive muscle weakness; joint contractures; no espiratory insufficiency; no cardiac involvement; no-loss ambulation; short stature; hypotonia; muscular atrophy 1 1 Johan den Dunnen
00474181 Fam6Pat6 PubMed: Tucker 2020 2-generation family, 3 affected (brother/2 sisters), unaffected parents F - Morocco Tuareg - - - - PRLTS see paper; ..., sensorineural hearing loss; premature ovarian insufficiency, 15y-menarche, oligomenorrhea; myopathy, muscle fatigue, difficulty climbing stairs, pain after exertion 1 3 Johan den Dunnen
00474182 Fam6Pat7 PubMed: Tucker 2020 sister F - Morocco Tuareg - - - - PRLTS see paper; ..., sensorineural hearing loss; premature ovarian insufficiency, late puberty, 15y-thelarche, 17y-menarche, irregular menstrual cycles; myopathy, fatigue, difficulty climbing stairs 1 1 Johan den Dunnen
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