Spondyloepimetaphyseal Dysplasia with Joint Laxity disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity ¹¹ ¹⁹ ⁵⁸ ²⁸ ⁵ ⁴³ ¹⁴

Semdjl ¹¹ ¹⁹

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Beighton Type ⁵⁸

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 ⁵⁸

Dysplasia, Spondyloepimetaphyseal, with Joint Laxity ³⁸

Spondyloepimetaphyseal Dysplasia Joint Laxity ¹⁹

Semdjl1 ⁵⁸

Semd-Jl ⁵⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸

Age Of Onset:

Infancy,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Bone diseases Skin diseases Muscle diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Spondyloepiphyseal dysplasia

Orphanet: ⁵⁸

Rare eye diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

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Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity

GARD: ¹⁹ A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).

MalaCards based summary: Spondyloepimetaphyseal Dysplasia with Joint Laxity, also known as semdjl, is related to spondyloepimetaphyseal dysplasia with joint laxity, type 2 and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone, spinal cord and skin, and related phenotypes are failure to thrive and abnormal facial shape

Orphanet: ⁵⁸ A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).

Disease Ontology: ¹¹ A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.

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Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Diseases in the Spondyloepimetaphyseal Dysplasia with Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)

#	Related Disease	Score	Top Affiliating Genes
1	spondyloepimetaphyseal dysplasia with joint laxity, type 2	33.4	ROGDI KIF22
2	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	32.2	XYLT2 XYLT1 MIA2 CSGALNACT1 CHPF2 CHPF
3	spondyloepimetaphyseal dysplasia	31.5	KIF22 EXOC6B B4GALT7 B3GALT6
4	ehlers-danlos syndrome, spondylodysplastic type, 2	30.3	CHPF2 B4GALT7 B3GAT3 B3GALT6
5	scoliosis	30.3	XYLT1 TBX6 KIF22 EXOC6B
6	ehlers-danlos syndrome	29.9	XYLT1 SLC39A13 MIA2 CHST14 B4GALT7 B3GAT3
7	osteochondrodysplasia	29.9	XYLT2 XYLT1 SLC39A13 MIA2 KIF22 CSGALNACT1
8	larsen syndrome	29.6	XYLT1 CSGALNACT1 CHST14 CHPF2 B4GALT7 B3GAT3
9	spondyloepimetaphyseal dysplasia with joint laxity, type 3	12.0
10	spondyloepimetaphyseal dysplasia with multiple dislocations	11.7
11	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.4
12	renal hypodysplasia/aplasia 1	10.2
13	pierre robin syndrome	10.2
14	isolated growth hormone deficiency, type ia	10.2
15	spondyloepimetaphyseal dysplasia, sponastrime type	10.2
16	fanconi anemia, complementation group e	10.2
17	renal hypodysplasia/aplasia 3	10.2
18	seckel syndrome	10.2
19	brachydactyly	10.2
20	microcephaly	10.2
21	arthropathy	10.2
22	myopathy	10.2
23	connective tissue disease	10.2
24	osteoarthritis	10.2
25	hypermobile ehlers-danlos syndrome	10.2
26	hip subluxation	10.2
27	pectus carinatum	10.2
28	multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects	10.2	B4GALT7 B3GAT3
29	chromosome 16p11.2 deletion syndrome	10.2	PAGR1 C16orf54
30	desbuquois dysplasia 1	10.2	XYLT1 CSGALNACT1
31	breast pericanalicular fibroadenoma	10.1	CSGALNACT1 CHPF
32	angioid streaks	10.1	XYLT2 XYLT1
33	ehlers-danlos syndrome, spondylodysplastic type, 1	10.1	CHPF2 B4GALT7
34	mucopolysaccharidosis, type iiic	10.1	XYLT2 XYLT1
35	caspase 8 deficiency	10.0	CHST14 B4GALT7 B3GALT6
36	hypermobility syndrome	9.9	SLC39A13 CHST14 B4GALT7
37	radioulnar synostosis	9.9	XYLT1 SLC39A13 B4GALT7 B3GAT3 B3GALT6
38	ehlers-danlos syndrome, musculocontractural type, 2	9.9	CHST14 CHPF2
39	episodic kinesigenic dyskinesia 1	9.9	TLCD3B DOC2A C16orf54 ASPHD1
40	ehlers-danlos syndrome, musculocontractural type, 1	9.9	CHST14 CHPF2
41	schneckenbecken dysplasia	9.9	CSGALNACT1 CHPF2
42	collagen disease	9.9	SLC39A13 CHST14 B4GALT7 B3GALT6
43	geroderma osteodysplasticum	9.8	MIA2 CHST14 B4GALT7 B3GAT3 B3GALT6
44	benign familial infantile epilepsy	9.8	TLCD3B KIF22 DOC2A C16orf54 ASPHD1
45	brittle bone disorder	9.8	SLC39A13 MIA2 CHST14 B4GALT7 B3GALT6
46	spondylocostal dysostosis 5	9.6	TLCD3B TBX6 KIF22 DOC2A C16orf54 ASPHD1
47	larsen-like syndrome b3gat3 type	9.6	XYLT2 XYLT1 SLC39A13 CHST14 B4GALT7 B3GAT3
48	desbuquois dysplasia	9.6	XYLT2 XYLT1 CSGALNACT1 CHST14 B4GALT7 B3GAT3
49	temtamy preaxial brachydactyly syndrome	9.4	XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF B4GALT7
50	spondyloepiphyseal dysplasia with congenital joint dislocations	9.3	XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF B4GALT7

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

⁵⁸ ³⁰ (show all 36)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	failure to thrive ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001508
2	abnormal facial shape ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001999
3	short stature ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004322
4	joint laxity ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001388
5	abnormal epiphysis morphology ³⁰	Hallmark (90%)		HP:0005930
6	hip dysplasia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001385
7	beaking of vertebral bodies ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004568
8	kyphoscoliosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002751
9	platyspondyly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000926
10	hip dislocation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002827
11	proptosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000520
12	blue sclerae ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000592
13	radioulnar dislocation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0006439
14	intellectual disability ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001249
15	high palate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000218
16	hearing impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000365
17	pectus carinatum ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000768
18	cleft palate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000175
19	micrognathia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000347
20	elbow flexion contracture ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002987
21	talipes equinovarus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001762
22	hyperextensible skin ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000974
23	ulnar deviation of finger ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0009465
24	abnormal heart morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001627
25	dislocated radial head ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003083
26	increased susceptibility to fractures ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002659
27	hypoplastic ilia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000946
28	limited elbow extension ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001377
29	flared metaphysis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003015
30	long upper lip ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011341
31	cardiorespiratory arrest ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006543
32	scoliosis ⁵⁸		Frequent (79-30%)
33	abnormal vertebral morphology ⁵⁸		Very frequent (99-80%)
34	abnormality of the metaphysis ⁵⁸		Very frequent (99-80%)
35	abnormality of epiphysis morphology ⁵⁸		Very frequent (99-80%)
36	abnormality of the elbow ⁵⁸		Frequent (79-30%)

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.1	B3GAT3 CHPF CHST14 CSGALNACT1 TBX6 XYLT1

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cochrane evidence based reviews: spondyloepimetaphyseal dysplasia with joint laxity

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Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

#	Genetic test	Affiliating Genes
1	Spondyloepimetaphyseal Dysplasia with Joint Laxity ²⁸

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Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

MalaCards : Bone, Spinal Cord, Skin, Eye, Heart, Brain

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Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

(show all 32)

#	Title	Authors	PMID	Year
1	Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. ⁶² ⁵	Vorster AA...Ramesar RS	24766538	2015
2	Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. ⁶² ⁵	Nakajima M...Ikegawa S	23664117	2013
3	Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. ⁵	Van Damme T...Malfait F	29931299	2018
4	Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy. ⁶²	Pinto E...Alves JE	36136119	2022
5	Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. ⁶²	Leoni C...Zampino G	34159694	2021
6	Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. ⁶²	Chimusa ER...Ramesar RS	30358852	2019
7	A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. ⁶²	Ben-Mahmoud A...Al-Gazali L	29443383	2018
8	Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. ⁶²	Trejo P...Campeau PM	29230159	2017
9	Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. ⁶²	Mizumoto S...Sugahara K	28346368	2017
10	Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. ⁶²	Honey EM	27245527	2016
11	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. ⁶²	Tuysuz B...Gunel M	25256152	2015
12	Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. ⁶²	Ritelli M...Colombi M	28649518	2015
13	A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. ⁶²	Sellars EA...Schaefer GB	25149931	2014
14	Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. ⁶²	Grosch M...Tagariello A	23665482	2013
15	Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. ⁶²	Boyden ED...Bonafe L	22152678	2011
16	Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. ⁶²	Min BJ...Cho TJ	22152677	2011
17	A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. ⁶²	Kim OH...Unger S	19277648	2009
18	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. ⁶²	Sulko J...Kozlowski K	18841068	2008
19	A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. ⁶²	Al Kaissi A...Grill F	18256824	2008
20	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ⁶²	Tsirikos AI...Chang WN	12784311	2003
21	Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. ⁶²	Nishimura G...Ikegawa S	12567412	2003
22	[Spondyloepimetaphyseal dysplasia-joint laxity]. ⁶²	Nishimura G	11528965	2001
23	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. ⁶²	Smith W...Pagon RA	10482874	1999
24	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. ⁶²	Pina-Neto JM...Jorge SM	8669438	1996
25	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. ⁶²	Christianson AL...Beighton P	8897044	1996
26	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. ⁶²	Bradburn JM...Hall BD	8588592	1995
27	Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl. ⁶²	Ricci R...Kozlowski K	7567245	1995
28	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ⁶²	Beighton P	8182720	1994
29	The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. ⁶²	Torrington M...Beighton P	2036742	1991
30	The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. ⁶²	Beighton P...Grobler L	6499247	1984
31	Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. ⁶²	Kozlowski K...Beighton P	6435203	1984
32	Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. ⁶²	Beighton P...Grobler L	6635864	1983

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Genes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Genes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity (2 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	800.56	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	23664117 24766538 29931299
2	EXOC6B	Exocyst Complex Component 6B	Protein Coding	364.41	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	26669664 30284759
3	KIF22	Kinesin Family Member 22	Protein Coding	26.06	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
4	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	8.25	DISEASES inferred ¹⁴ ¹⁴
5	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	7.52	DISEASES inferred ¹⁴
6	MIA2	MIA SH3 Domain ER Export Factor 2	Protein Coding	7.13	DISEASES inferred ¹⁴ ¹⁴
7	B3GAT3	Beta-1,3-Glucuronyltransferase 3	Protein Coding	6.84	DISEASES inferred ¹⁴
8	XYLT1	Xylosyltransferase 1	Protein Coding	6.73	DISEASES inferred ¹⁴
9	XYLT2	Xylosyltransferase 2	Protein Coding	6.24	DISEASES inferred ¹⁴
10	C16orf54	Chromosome 16 Open Reading Frame 54	Protein Coding	6.12	DISEASES inferred ¹⁴
11	TLCD3B	TLC Domain Containing 3B	Protein Coding	6	DISEASES inferred ¹⁴
12	ASPHD1	Aspartate Beta-Hydroxylase Domain Containing 1	Protein Coding	5.98	DISEASES inferred ¹⁴
13	CHPF	Chondroitin Polymerizing Factor	Protein Coding	5.89	DISEASES inferred ¹⁴
14	SLC39A13	Solute Carrier Family 39 Member 13	Protein Coding	5.7	DISEASES inferred ¹⁴
15	CSGALNACT1	Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1	Protein Coding	5.64	DISEASES inferred ¹⁴
16	ROGDI	Rogdi Atypical Leucine Zipper	Protein Coding	5.47	DISEASES inferred ¹⁴
17	DOC2A	Double C2 Domain Alpha	Protein Coding	5.46	DISEASES inferred ¹⁴
18	CHPF2	Chondroitin Polymerizing Factor 2	Protein Coding	5.43	DISEASES inferred ¹⁴
19	TBX6	T-Box Transcription Factor 6	Protein Coding	5.38	DISEASES inferred ¹⁴
20	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	5.36	DISEASES inferred ¹⁴
21	FAM20B	FAM20B Glycosaminoglycan Xylosylkinase	Protein Coding	5.36	DISEASES inferred ¹⁴
22	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	5.32	DISEASES inferred ¹⁴
23	MGAT2	Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase	Protein Coding	5.26	DISEASES inferred ¹⁴

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Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

⁵ (show top 50) (show all 145)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	B3GALT6	NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	SNV	Pathogenic	60484	rs786200938	GRCh37: 1:1167659-1167659 GRCh38: 1:1232279-1232279
2	B3GALT6	NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)	SNV	Pathogenic	60489	rs397514720	GRCh37: 1:1167858-1167858 GRCh38: 1:1232478-1232478
3	B3GALT6	NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)	SNV	Pathogenic	1452181		GRCh37: 1:1167660-1167660 GRCh38: 1:1232280-1232280
4	B3GALT6	NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys)	SNV	Likely Pathogenic	1067539		GRCh37: 1:1167660-1167660 GRCh38: 1:1232280-1232280
5	B3GALT6	NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys)	SNV	Uncertain Significance	1520788		GRCh37: 1:1168541-1168541 GRCh38: 1:1233161-1233161
6	B3GALT6	NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	DUP	Uncertain Significance	427130	rs533071750	GRCh37: 1:1168239-1168240 GRCh38: 1:1232859-1232860
7	B3GALT6	NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys)	SNV	Uncertain Significance	624636	rs1314046622	GRCh37: 1:1168203-1168203 GRCh38: 1:1232823-1232823
8	B3GALT6	NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)	MICROSAT	Uncertain Significance	421834	rs755700896	GRCh37: 1:1168012-1168013 GRCh38: 1:1232632-1232633
9	B3GALT6	NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser)	SNV	Uncertain Significance	453100	rs759357299	GRCh37: 1:1168476-1168476 GRCh38: 1:1233096-1233096
10	B3GALT6	NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser)	SNV	Uncertain Significance	387709	rs1057522880	GRCh37: 1:1168025-1168025 GRCh38: 1:1232645-1232645
11	B3GALT6	NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg)	SNV	Uncertain Significance	1211943		GRCh37: 1:1168241-1168241 GRCh38: 1:1232861-1232861
12	B3GALT6	NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn)	SNV	Uncertain Significance	1356369		GRCh37: 1:1168473-1168473 GRCh38: 1:1233093-1233093
13	B3GALT6	NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro)	SNV	Uncertain Significance	985304	rs1638553187	GRCh37: 1:1168116-1168116 GRCh38: 1:1232736-1232736
14	B3GALT6	NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys)	SNV	Uncertain Significance	1204929		GRCh37: 1:1167931-1167931 GRCh38: 1:1232551-1232551
15	B3GALT6	NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu)	SNV	Uncertain Significance	1382663		GRCh37: 1:1168012-1168012 GRCh38: 1:1232632-1232632
16	B3GALT6	NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met)	SNV	Uncertain Significance	1362087		GRCh37: 1:1167886-1167886 GRCh38: 1:1232506-1232506
17	B3GALT6	NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)	SNV	Uncertain Significance	1419814		GRCh37: 1:1167806-1167806 GRCh38: 1:1232426-1232426
18	overlap with 76 genes	NC_000001.10:g.(?_861322)_(3768971_?)del	DEL	Uncertain Significance	1412663		GRCh37: 1:861322-3768971 GRCh38:
19	B3GALT6	NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met)	SNV	Uncertain Significance	1425625		GRCh37: 1:1168491-1168491 GRCh38: 1:1233111-1233111
20	B3GALT6	NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly)	SNV	Uncertain Significance	1434609		GRCh37: 1:1167818-1167818 GRCh38: 1:1232438-1232438
21	B3GALT6	NM_080605.4(B3GALT6):c.347A>G (p.His116Arg)	SNV	Uncertain Significance	1427535		GRCh37: 1:1168005-1168005 GRCh38: 1:1232625-1232625
22	B3GALT6	NM_080605.4(B3GALT6):c.150dup (p.Ala51fs)	DUP	Uncertain Significance	1461952		GRCh37: 1:1167802-1167803 GRCh38: 1:1232422-1232423
23	B3GALT6	NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr)	SNV	Uncertain Significance	1431232		GRCh37: 1:1167852-1167852 GRCh38: 1:1232472-1232472
24	B3GALT6	NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup)	MICROSAT	Uncertain Significance	1472063		GRCh37: 1:1168186-1168187 GRCh38: 1:1232806-1232807
25	B3GALT6	NM_080605.4(B3GALT6):c.856A>G (p.Met286Val)	SNV	Uncertain Significance	1475774		GRCh37: 1:1168514-1168514 GRCh38: 1:1233134-1233134
26	B3GALT6	NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg)	SNV	Uncertain Significance	1476389		GRCh37: 1:1168239-1168239 GRCh38: 1:1232859-1232859
27	B3GALT6	NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser)	SNV	Uncertain Significance	1484075		GRCh37: 1:1168281-1168281 GRCh38: 1:1232901-1232901
28	B3GALT6	NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro)	SNV	Uncertain Significance	1507860		GRCh37: 1:1168529-1168529 GRCh38: 1:1233149-1233149
29	B3GALT6	NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)	DEL	Uncertain Significance	1498946	rs778123798	GRCh37: 1:1168168-1168175 GRCh38: 1:1232788-1232795
30	B3GALT6	NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val)	SNV	Uncertain Significance	281706	rs778444849	GRCh37: 1:1168245-1168245 GRCh38: 1:1232865-1232865
31	B3GALT6	NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)	SNV	Uncertain Significance	1208606		GRCh37: 1:1168553-1168553 GRCh38: 1:1233173-1233173
32	B3GALT6	NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)	SNV	Uncertain Significance	986387	rs1638552845	GRCh37: 1:1168105-1168105 GRCh38: 1:1232725-1232725
33	B3GALT6	NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser)	SNV	Uncertain Significance	1387107		GRCh37: 1:1168304-1168304 GRCh38: 1:1232924-1232924
34	B3GALT6	NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly)	SNV	Uncertain Significance	1397919		GRCh37: 1:1168179-1168179 GRCh38: 1:1232799-1232799
35	B3GALT6	NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup)	DUP	Uncertain Significance	1358020		GRCh37: 1:1167871-1167872 GRCh38: 1:1232491-1232492
36	B3GALT6	NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu)	SNV	Uncertain Significance	1371061		GRCh37: 1:1168122-1168122 GRCh38: 1:1232742-1232742
37	B3GALT6	NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly)	SNV	Uncertain Significance	1404166		GRCh37: 1:1168161-1168161 GRCh38: 1:1232781-1232781
38	B3GALT6	NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs)	DUP	Uncertain Significance	1362915		GRCh37: 1:1167927-1167928 GRCh38: 1:1232547-1232548
39	B3GALT6	NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys)	SNV	Uncertain Significance	1363546		GRCh37: 1:1168169-1168169 GRCh38: 1:1232789-1232789
40	B3GALT6	NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu)	SNV	Uncertain Significance	1398493		GRCh37: 1:1168542-1168542 GRCh38: 1:1233162-1233162
41	B3GALT6	NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr)	SNV	Uncertain Significance	1425377		GRCh37: 1:1167836-1167836 GRCh38: 1:1232456-1232456
42	B3GALT6	NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr)	SNV	Uncertain Significance	1423921		GRCh37: 1:1167803-1167803 GRCh38: 1:1232423-1232423
43	B3GALT6	NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu)	SNV	Uncertain Significance	1439809		GRCh37: 1:1168487-1168487 GRCh38: 1:1233107-1233107
44	B3GALT6	NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs)	DUP	Uncertain Significance	1432546		GRCh37: 1:1168146-1168147 GRCh38: 1:1232766-1232767
45	B3GALT6	NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe)	SNV	Uncertain Significance	1425911		GRCh37: 1:1168461-1168461 GRCh38: 1:1233081-1233081
46	B3GALT6	NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro)	SNV	Uncertain Significance	1464788		GRCh37: 1:1167821-1167821 GRCh38: 1:1232441-1232441
47	B3GALT6	NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg)	SNV	Uncertain Significance	1438621		GRCh37: 1:1167767-1167767 GRCh38: 1:1232387-1232387
48	B3GALT6	NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs)	MICROSAT	Uncertain Significance	1461477		GRCh37: 1:1167683-1167684 GRCh38: 1:1232303-1232304
49	B3GALT6	NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs)	DUP	Uncertain Significance	1473227		GRCh37: 1:1167680-1167681 GRCh38: 1:1232300-1232301
50	B3GALT6	NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly)	SNV	Uncertain Significance	1488768		GRCh37: 1:1168047-1168047 GRCh38: 1:1232667-1232667

Sources

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity.

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Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Pathways related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.43	XYLT2 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF
2	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis (late stages) ⁶¹ Defective HEXA causes GM2G1 ⁶⁶ Defective HEXB causes GM2G2 ⁶⁶ Glycosaminoglycan degradation ⁷⁴ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶ MPS I - Hurler syndrome ⁶⁶ MPS II - Hunter syndrome ⁶⁶ MPS IIIA - Sanfilippo syndrome A ⁶⁶ MPS IIIB - Sanfilippo syndrome B ⁶⁶ MPS IIIC - Sanfilippo syndrome C ⁶⁶ MPS IIID - Sanfilippo syndrome D ⁶⁶ MPS IV - Morquio syndrome A ⁶⁶ MPS IX - Natowicz syndrome ⁶⁶ MPS VI - Maroteaux-Lamy syndrome ⁶⁶ MPS VII - Sly syndrome ⁶⁶ Mucopolysaccharidoses ⁶⁶	12.68	XYLT2 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF
3	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	12.32	CHST14 B4GALT7 B3GAT3 B3GALT6
4	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁶ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁶ Chondroitin sulfate biosynthesis ⁶⁶ CS/DS degradation ⁶⁶ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁶ Defective B3GAT3 causes JDSSDHD ⁶⁶ Defective B4GALT7 causes EDS, progeroid type ⁶⁶ Defective CHST14 causes EDS, musculocontractural type ⁶⁶ Defective CHST3 causes SEDCJD ⁶⁶ Defective CHSY1 causes TPBS ⁶⁶ Dermatan sulfate biosynthesis ⁶⁶ dermatan sulfate biosynthesis (late stages) ⁶¹ Diseases associated with glycosaminoglycan metabolism ⁶⁶	12.01	XYLT2 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF
5	16p11.2 proximal deletion syndrome ⁷⁴	11.57	ASPHD1 C16orf54 DOC2A KIF22 PAGR1 TBX6
6	Proteoglycan biosynthesis ⁷⁴	10.42	XYLT2 XYLT1 CSGALNACT1 CHST14 B4GALT7 B3GAT3

Sources

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016021	10.52	ASPHD1 B3GALT6 B3GAT3 B4GALT7 C16orf54 CHPF
2	membrane	GO:0016020	10.52	ASPHD1 B3GALT6 B3GAT3 B4GALT7 C16orf54 CHPF
3	Golgi apparatus	GO:0005794	10.03	B3GALT6 B3GAT3 B4GALT7 CHPF CHPF2 CHST14
4	Golgi membrane	GO:0000139	9.66	XYLT2 XYLT1 TLCD3B SLC39A13 CSGALNACT1 CHST14
5	Golgi cisterna membrane	GO:0032580	9.65	CSGALNACT1 CHPF2 CHPF B4GALT7 B3GALT6

Biological processes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heparan sulfate proteoglycan biosynthetic process	GO:0015012	9.97	XYLT2 XYLT1 B3GAT3 B3GALT6
2	glycosaminoglycan metabolic process	GO:0030203	9.92	XYLT2 XYLT1 B4GALT7 B3GALT6
3	chondroitin sulfate proteoglycan biosynthetic process	GO:0050650	9.86	B3GAT3 CSGALNACT1 XYLT1 XYLT2
4	proteoglycan biosynthetic process	GO:0030166	9.81	XYLT2 XYLT1 CSGALNACT1 B4GALT7 B3GALT6
5	heparin biosynthetic process	GO:0030210	9.73	XYLT2 CSGALNACT1
6	dermatan sulfate proteoglycan biosynthetic process	GO:0050651	9.71	CSGALNACT1 B3GAT3
7	glycosaminoglycan biosynthetic process	GO:0006024	9.65	XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6
8	chondroitin sulfate biosynthetic process	GO:0030206	9.4	XYLT2 XYLT1 CSGALNACT1 CHPF2 CHPF B3GALT6

Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	9.85	XYLT2 XYLT1 TLCD3B CSGALNACT1 CHST14 CHPF2
2	acetylgalactosaminyltransferase activity	GO:0008376	9.73	CSGALNACT1 CHPF2 CHPF
3	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	GO:0050510	9.67	CHPF CHPF2
4	protein xylosyltransferase activity	GO:0030158	9.62	XYLT1 XYLT2
5	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	GO:0047238	9.43	CSGALNACT1 CHPF2 CHPF
6	glycosyltransferase activity	GO:0016757	9.17	XYLT2 XYLT1 CHPF2 CHPF B4GALT7 B3GALT6

Sources

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity

¹ BitterDB

² CDC

³ Cell Signaling Technology

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⁵ ClinVar

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⁸ Cosmic

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²³ GeneHancer via GeneCards

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²⁶ GEO DataSets

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³¹ ICD10

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³⁵ IUPHAR

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³⁷ LncRNADisease

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⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: SPN448 MIFTS: 47	Spondyloepimetaphyseal Dysplasia with Joint Laxity Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Oral diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Spondyloepimetaphyseal Dysplasia with Joint Laxity

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Characteristics:

Inheritance:

Age Of Onset:

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Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Diseases in the Spondyloepimetaphyseal Dysplasia with Joint Laxity family:

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cochrane evidence based reviews: spondyloepimetaphyseal dysplasia with joint laxity

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity

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Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity

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Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

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Genes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

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Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Pathways related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

Biological processes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity