Disease #00922 (EDSKSCL2 (Ehlers-Danlos syndrome, kyphoscoliotic, type 2 (EDSKSCL-2)), OMIM:614557)

Official abbreviation EDSKSCL2
Name Ehlers-Danlos syndrome, kyphoscoliotic, type 2 (EDSKSCL-2)
OMIM ID 614557
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 0
Associated with 1 gene FKBP14
Associated tissues -
Disease features -
Remarks autosomal recessive


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00319488 - PubMed: Aldeeri et al., 2014 This patient was presented again by {PMID27023906:Alazami et al., 2016} as Family 17 ID: 07DG-0027.The intronic deletion is predicted to lead to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon. - - - - - 0 - - EDS, EDSKSCL2 - FKBP14 FKBP14 1 1 Raymond Dalgleish
00319489 - {PMID27149304 :Dordoni et al. 2016} Typographical error in 'Molecular Characterization' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data. - - Italy Italy - 0 - - EDS, EDSKSCL2 Originally described as EDS FKBP22, FKBP14 FKBP14 2 1 Raymond Dalgleish
00319490 - PubMed: Murray et al., 2014 - - - Germany;United Kingdom (Great Britain) German & English American - 0 - - EDS, EDSKSCL2 Originally described as EDS FKBP22, FKBP14 FKBP14 1 1 Raymond Dalgleish
00319491 - PubMed: Bursztejn et al.,2016 - - - France France - 0 - - EDS, EDSKSCL2 Originally described as EDS FKBP22, FKBP14 FKBP14 1 1 Raymond Dalgleish
00319492 - PubMed: Ruiz-Botero et al., 2019 The patient (17F) was born to consanguineous parents who are first cousins. The technique used was whole exome sequencing. - - Colombia Colombian - 0 - - EDS, EDSKSCL2 - FKBP14 FKBP14 1 1 Raymond Dalgleish
00319493 - PubMed: Castori et al., 2019 The patient (15F) was conceived via IVF and has an unaffected twin brother. Parents were not consanguineous. The technique used was the custom NGS Gene panel. - - - - - 0 - - EDS, EDSKSCL2 - FKBP14 FKBP14 1 1 Raymond Dalgleish
00319495 P1/F1 PubMed: Giunta et al., 2018 - - - Egypt Egypt/Ara - 0 - - EDS, EDSKSCL2 - FKBP14 FKBP14 1 1 Cecilia Giunta
00413322 - - - - - - - - - - - EDSKSCL2 - FKBP14 FKBP14 1 1 Marlies Colman
00413323 - - - - - - - - - - - EDSKSCL2 - FKBP14 FKBP14 1 1 Marlies Colman
00413343 - - - - - - - - - - - EDSKSCL2 - FKBP14 FKBP14 1 1 Marlies Colman
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