All individuals with variants in gene PRDM5

32 entries on 1 page. Showing entries 1 - 32.
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00038385 Pat4 PubMed: Porter 2015 - F ? Turkey white - - - - BCS2 see paper; ..., marked corneal thinning, irregular astigmatism, characteristic sclerae, arachnodactyly, joint laxity, particularly large joints upper extremities, pes planus 1 1 Louise Porter
00038386 Pat5 PubMed: Porter 2015 - F ? Spain white - - - - BCS2 see paper; ..., blue sclera, significant corneal thinning, high myopia with choroidal neovascularization, scoliosis, arachnodactyly, joint hypermobility 1 1 Louise Porter
00051528 Pat1 PubMed: Micheal 2016, Journal: Micheal 2016 sporadic patient M no Serbia - - - - - ? Brittle cornea syndrome; diagnosed with congenital hip dislocation requiring surgery; 5y-bilateral ocular trauma, sustained bilateral corneal perforations and retinal detachments in both eyes, high myopia; macrocephaly, enlarged arm span, pectus carinatum, arachnodactyly, pes plani, scoliosis, hearing loss.; ECG unremarkable with normal aortic root measurements 1 1 Shazia Micheal
00051532 FamPatIV5 PubMed: Micheal 2016, Journal: Micheal 2016 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents M yes Pakistan - - - - - BCS2 see paper, brittel cornea syndrome, ... 1 4 Shazia Micheal
00143193 Pat1 PubMed: Aldahmesh 2012 healthy first cousins parents F yes Saudi Arabia - - - - - BCS see paper, ..., blue sclerae, keratoconus 1 1 Johan den Dunnen
00293529 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 13 Mohammed Faruq
00419510 9128 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00448060 Fam901Pat04 PubMed: Burkitt Wright 2011 family - yes Saudi Arabia - - - - - EDS see paper; ..., corneal rupture; myopia; blue sclera; no keratoconus; keratoglobus; megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; no myalgia; no abnormal gait; deafness; severe scleral fragility; skin hyperelasticity 1 1 Johan den Dunnen
00448061 Fam902Pat03 PubMed: Burkitt Wright 2011 family, 2 affected - yes Saudi Arabia - - - - - EDS see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness; sclerocornea; cornea plana 1 2 Johan den Dunnen
00448062 Fam902Pat05 PubMed: Burkitt Wright 2011 relative - yes Saudi Arabia - - - - - EDS see paper; ..., corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness; sclerocornea; cornea plana 1 1 Johan den Dunnen
00448063 Fam914Pat04 PubMed: Burkitt Wright 2011 family, 2 affected - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., corneal rupture; blue sclera; keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; no small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness 1 2 Johan den Dunnen
00448064 Fam914Pat06 PubMed: Burkitt Wright 2011 relative - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., corneal rupture; blue sclera; no keratoconus; no keratoglobus; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; no small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness 1 1 Johan den Dunnen
00448065 FamK921Pat03 PubMed: Burkitt Wright 2011 family, 2 affected - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; keratoglobus; megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; no deafness; corneal opacity; hernia; generalized joint hypermobility 1 2 Johan den Dunnen
00448066 FamK923Pat03 PubMed: Burkitt Wright 2011 relative - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; no deafness; hernia; skin hyperelasticity; genu vara; pes planus; tibial bowing; generalized joint hypermobility 1 1 Johan den Dunnen
00448067 FamBCS-001PatIV4 PubMed: Burkitt Wright 2011 5-generation family, 9 affected (9F) F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; primiparous cervical incompetence 1 9 Johan den Dunnen
00448068 FamBCS-001PatIV6 PubMed: Burkitt Wright 2011 sister F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes 1 1 Johan den Dunnen
00448069 FamBCS-001PatIV8 PubMed: Burkitt Wright 2011 sister F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes 1 1 Johan den Dunnen
00448070 FamBCS-001PatIV9 PubMed: Burkitt Wright 2011 twin sisters F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes 1 1 Johan den Dunnen
00448071 FamBCS-001PatIV6 PubMed: Burkitt Wright 2011 twin sisters F yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; no myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; learning disability 1 1 Johan den Dunnen
00448072 FamBCS-002PatV1 PubMed: Burkitt Wright 2011 5-generation family, 4 affected (2F, 2M) M yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; keratoconus; no keratoglobus; no megalocornea; poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; normal gait; deafness; hypercompliant tympanic membranes; hernia 1 4 Johan den Dunnen
00448073 FamBCS-002PatV4 PubMed: Burkitt Wright 2011 nephew F yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; learning disability 1 1 Johan den Dunnen
00448074 FamBCS-002PatV5 PubMed: Burkitt Wright 2011 niece M yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; no myalgia; normal gait; deafness; no hypercompliant tympanic membranes; learning disability; cleft lip and palate; phenylketonuria 1 1 Johan den Dunnen
00448075 controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00448076 controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - Healthy/Control - 1 16 Johan den Dunnen
00448077 controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00448078 controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - Healthy/Control - 1 15 Johan den Dunnen
00448079 controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00448080 controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - Healthy/Control - 1 2 Johan den Dunnen
00448081 controls PubMed: Burkitt Wright 2011 analysis 401 control individuals - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00450417 RPID75 PubMed: Hall 2024 - - - - - - - - - AN aniridia 1 1 Johan den Dunnen
00465842 Fam36 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Marked joint laxity, blue sclera, depressed nasal bridge, mild generalized hypotonia 1 1 Johan den Dunnen
00466834 Pat121 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI - 1 1 Johan den Dunnen
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