Disease #03902 (EDSSPD2 (Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2)), OMIM:615349)

Official abbreviation EDSSPD2
Name Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2)
OMIM ID 615349
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 17
Phenotype entries for this disease 0
Associated with 1 gene B3GALT6
Associated tissues -
Disease features -
Remarks -


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00318136 - PubMed: Van Damme et al., 2018 - - - India Indian - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318139 - PubMed: Van Damme et al., 2018 The technique used was the custom NGS Gene panel. - - France French - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318140 - PubMed: Van Damme et al., 2018 A non-consanguineous couple of Caucasian origin had two pregnancies terminated because of severe skeletal dysplasia. The second pregnancy was assigned the Patient ID AN_005849.The technique used was whole exome sequencing. - - Netherlands Dutch - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318141 - PubMed: Van Damme et al., 2018 This patient (PIV:1) has two affected siblings with IDs AN_005842 and AN_005843. - - Congo;Rwanda Congolese-Rwandan - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318150 P3 PubMed: Malfait et al., 2013 Has a younger sister, P4, of the same genotype - - Iran - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318152 - PubMed: Van Damme et al., 2018 - - - Netherlands Dutch - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318153 - PubMed: Sellars et al., 2014 The authors have confirmed the transcript-level sequence variants that cause the amino acid substitutions.The technique used was whole exome sequencing. - - - - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318154 - PubMed: Van Damme et al., 2018 - - - Netherlands Dutch - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318156 - PubMed: Van Damme et al., 2018 The technique used was the custom NGS Gene panel. - - United States USA - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318157 Family 9 PubMed: Alazami et al., 2016 The formal ID for this family is 12DG2007.The technique used was whole exome sequencing. - - - - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318158 - PubMed: Van Damme et al., 2018 - - - Iran Iranian - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Sofie Symoens
00318159 Family 6 PubMed: Alazami et al., 2016 The proband has an affected cousin.The formal ID for this family is 12DG0715.The technique used was whole exome sequencing. - - - - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318160 Family 7 PubMed: Alazami et al., 2016 There are two affected individuals in this family.The formal ID for this family is 12DG1291.The technique used was whole genome sequencing. - - - - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318161 Family 8 PubMed: Alazami et al., 2016 The formal ID for this family is 12DG2397.The technique used was whole genome sequencing. - - - - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318164 P1 PubMed: Malfait et al., 2013 P1 has a maternal cousin, P2, of the same genotype - - Iran - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318165 P5 PubMed: Malfait et al., 2013 - - - Iran - - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318167 - PubMed: Van Damme et al., 2018 The technique used was whole exome sequencing. - - United States USA - 0 - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
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