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

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
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? (unknown)
- (not applicable)
Afghanistan
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Cunha
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Zimbabwe
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Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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17 entries on 1 page. Showing entries 1 - 17.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
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 et al., 2016	The formal ID for this family is 12DG2007.The technique used was whole exome sequencing.	-	-	-	-	-	-	-	EDS, EDSSPD2	-	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 et al., 2016	The proband has an affected cousin.The formal ID for this family is 12DG0715.The technique used was whole exome sequencing.	-	-	-	-	-	-	-	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.	-	-	-	-	-	-	-	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.	-	-	-	-	-	-	-	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	-	-	-	-	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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