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 -
Associated with 1 gene B3GALT6
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00318136 - PubMed: Van Damme et al., 2018 - - - India Indian - - - - 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 - - - - 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 - - - - 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 - - - - 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 - - - - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318152 - PubMed: Van Damme et al., 2018 - - - Netherlands Dutch - - - - 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. - - - - - - - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318154 - PubMed: Van Damme et al., 2018 - - - Netherlands Dutch - - - - 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 - - - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
00318157 Family 9 PubMed: Alazami 2016 The formal ID for this family is 12DG2007.The technique used was whole exome sequencing. - - Saudi Arabia - - - - - EDS, EDSSPD2 spondyloepimetaphyseal dysplasia, rhizomelia, multiple joint dislocations of the elbows and knees, profound joint hyperlaxity, bilateral TEV, severe progressive kyphoscolio- sis, relative macrocephaly, short stature, global develop- mental delay, dysmorphism (blue sclera, downstlanting palpebral fissures, depressed nasal bridge and upturned nares), MVP, middle ear effusion and asthma GERD B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318158 - PubMed: Van Damme et al., 2018 - - - Iran Iranian - - - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Sofie Symoens
00318159 Family 6 PubMed: Alazami 2016 The proband has an affected cousin.The formal ID for this family is 12DG0715.The technique used was whole exome sequencing. - - Saudi Arabia - - - - - EDS, EDSSPD2 severe skin and joint laxity, history of multiple fractures, blue sclera with no facial dysmorphism, severe khyphosco- liosis, marked acetabular dysplasia, bilateral radial head dislocation, developmental delay and severe short stature B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318160 Family 7 PubMed: Alazami 2016 There are two affected individuals in this family.The formal ID for this family is 12DG1291.The technique used was whole genome sequencing. - - Saudi Arabia - - - - - EDS, EDSSPD2 severe skin and joint laxity with multiple dislocations of both small and large joints, fractures, blue sclera, facial dysmorphism, kyphoscoliosis, TEV, hypotonia, motor delay and cognitive impairment with brain atrophy B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318161 Family 8 PubMed: Alazami 2016 The formal ID for this family is 12DG2397.The technique used was whole genome sequencing. - - Saudi Arabia - - - - - EDS, EDSSPD2 joint laxity, multiple joint dislocations, distal arthrogryposis, arachnodactyly, AS, dysmorphic features (broad promi- nent forehead, arched eyebrows, long eyelashes, deep-set eyes, mildly depressed nasal bridge with upturned nostrils, smooth lips, low-set ears and a short neck with a low hairline) B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318164 P1 PubMed: Malfait et al., 2013 P1 has a maternal cousin, P2, of the same genotype - - Iran - - - - - EDS, EDSSPD2 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318165 P5 PubMed: Malfait et al., 2013 - - - Iran - - - - - 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 - - - - EDS, EDSSPD2 - B3GALT6 B3GALT6 2 1 Sofie Symoens
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