All individuals with variants in gene AEBP1

11 entries on 1 page. Showing entries 1 - 11.
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00164776 FamD-II:1 - 2 affected siblings (1F, 1M), unaffected heterozygous mother F no (Greece) - - - yes corset, hand splints EDS Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, Mitral valve prolapse, Structural foot deformity, Prematurely aged appearance, kyphoscoliosis , 1 2 Moritz Hebebrand
00164777 29606302-FamAII1 PubMed: Blackburn 2019 2-generation family, 1 affected, unaffected carrier parents M no Germany;Panama white - - no - EDS Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Mitral valve prolapse, Severe osteopenia, Structural foot deformity, cryptorchidism, motor delay, impaired temperature sensation, keratoconjuncitivitis sicca, Piezogenic pedal papules 2 1 Moritz Hebebrand
00164779 29606302-FamBII1 PubMed: Blackburn 2018 2-generation family, 1 affected, unaffected carrier parents M no Italy white - - - - EDS Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, scoliosis, thoracic scoliosis, facet joint arthrosis, degenerative disc disease, severe osteopenia, mitral valve prolapse, aortic dilatation, carotid artery stenosis, structural foot deformity, Piezogenic pedal papules, sacral dimple, hypertriglyceridemia MRI: empty sella 1 1 Moritz Hebebrand
00164781 27023906, 29606302-FamCIV4/6 PubMed: Alazami 2016, PubMed: Blackburn 2018 The ID for this family is 14DG1601. The patient has an affected older brother who is also homozygous for the pathogenic variant. The parents are consanguineous: double first cousins. The siblings presented here were later reported by Blackburn et al., 2018 as Family C. F yes - middle eastern - - - - EDS Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, hernias, Interpedicular narrowing, severe osteopenia, structural foot deformity, congenital hypotonia, poor feeding, motor delay, diabetes mellitus, cellulitis, micrognathia, high arched palate, bilateral ptosis, 1 2 Moritz Hebebrand
00319458 - PubMed: Syx et al., 2019 The proband's parents are consanguineous,The technique used was whole exome sequencing. - - - white - - - - EDS Originally described as EDS Autosomal Recessive, 1 1 Sofie Symoens
00319459 - PubMed: Syx et al., 2019 The splice site variant causes loss of 114 bp corresponding to an in-frame deletion of 38 amino acids.The technique used was whole exome sequencing. - - - white - - - - EDS Originally described as EDS Autosomal Recessive, 2 1 Sofie Symoens
00319460 - PubMed: Hebebrand et al., 2019 The patient has an older brother who is also homozygous for the pathogenic variant. Their parents are non-consanguineous.The technique used was the custom exome panel. - - Greece Greek - - - - EDS Originally described as EDS Autosomal Recessive, 1 1 Raymond Dalgleish
00319461 - PubMed: Ritelli et al., 2019 The proband's parents are second cousins. - - Italy Italian - - - - EDS Originally described as EDS Autosomal Recessive, 1 1 Marco Ritelli, Marina Colombi
00413450 - PubMed: Colman 2021, Journal: Colman 2021 - - - - - - - - - EDS - 1 1 Johan den Dunnen
00413451 - PubMed: Colman 2021, Journal: Colman 2021 - - - - - - - - - EDS - 2 1 Johan den Dunnen
00427963 - - - F - Japan - - - - - EDSCLL2 - 1 1 Tomoki Kosho
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