All individuals with variants in gene B3GAT3

24 entries on 1 page. Showing entries 1 - 24.
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00016301 - PubMed: Baasanjav 2011 4-generation family, 4 affecteds, unaffected carrier parents - yes United Arab Emirates - - - - - JDSCD see paper 1 4 Johan den Dunnen
00235371 patient PubMed: Ritelli 2019 - F no (Italy) - 16y - - - JDSCD see paper; ... 2 1 Marco Ritelli
00290461 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00418359 Ind1 PubMed: Scott 2017 2 generation family, 1 affected, no family history M - United States Hispanic - - - - CHD atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, right ventricular hypertrophy, ventricular septal defect; no hypotonia; language delay; gross motor delay; feeding problems; MRI brain 1m-normal, 1y4m-mild truncation splenium of corpus callosum; relative macrocephaly, plagiocephaly, bilateral epicanthal folds, downslanting palpebral fissures, bilateral accessory nipples, widely spaced teeth, fifth finger clinodactyly 1 1 Johan den Dunnen
00465797 patient PubMed: von Oettingen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Arab Emirates - - - - - JDSCD see paper; ..., skeletal dysplasia, global developmental delay, multiple congenital anomalies; bilateral hip/elbow dislocations; right inguinal hernia (surgically corrected); failure to thrive; short stature 1 1 Johan den Dunnen
00465798 family PubMed: Budde 2015 6-generation family, 8 affected (6F, 2M), unaffected heterozygous carrier parents/relatives F;M - Japan - - - - - skeletal dysplasia see paper; ..., bone dysplasia, dislocated joints, craniofacial dysmorphism, disproportionate short stature; no heart phenotype 1 8 Johan den Dunnen
00465800 patient PubMed: Jones 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Mexico - - - - - ? see paper; ..., blue sclerae; bilateral radio-ulnar synostosis, severe osteopenia, increased gap between first/second toes, bilateral club feet, atrial/ventricular septal defects; bilateral glaucoma, hypertelorism, upturned nose, anteverted nares, small chest, diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas 1 1 Johan den Dunnen
00465801 Fam1Pat1A/1B PubMed: Byrne 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F;M - Australia - <00y09m - - - skeletal dysplasia see paper; ..., boy 16wg-stillborn; girl 9m-deceased 2 2 Johan den Dunnen
00465803 cmh000720 PubMed: Job 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - skeletal dysplasia see paper; ..., osteoporosis, hypotonia, joint laxity, fractures, scoliosis, biscuspid aortic valve, myopia,hip dysplasia 2 1 Johan den Dunnen
00465804 patient PubMed: Bloor 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother F no United Kingdom (Great Britain) white - - - - ? see paper; ..., dysmorphic features (anteverted nares, small upturned nose, hypertelorism, slight frontal bossing), short proximal bones (femur, humerus) hypermobile joints, downslanting palpebral fissures, congenital sensorineural deafness, ventricular septal defect, pulmonary stenosis (surgically corrected) 1 1 Johan den Dunnen
00465805 patient PubMed: Bolund 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Denmark - - - - - ? see paper; ..., severe joint malalignment elbows, hips, knees and feet, hypermobility, severe kyphoscoliosis, osteoporosis with multiple fractures in childhood, congenital diaphragmatic hernia, minor dental anomalies, digital malformations, characteristic facial features 1 1 Johan den Dunnen
00465806 Pat1 PubMed: Colman 2019 family, 1 affected, unaffected heterozygous carrier parents (third-degree consanguineous marriage) M yes India - - - - - ? see paper; ..., 2.5m-deceased 1 1 Johan den Dunnen
00465807 Pat2 PubMed: Colman 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - ? see paper; ... 1 1 Johan den Dunnen
00465808 Fam1Pat1 PubMed: Yauy 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes France Morocco - - - - ? see paper; ..., short stature; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; no dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; cardiovascular abnormalities 1 1 Johan den Dunnen
00465809 Fam2Pat2 PubMed: Yauy 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes France Morocco - - - - ? see paper; ..., no short stature; no craniosynostosis; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; no dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; cardiovascular abnormalities 1 1 Johan den Dunnen
00465810 Fam3Pat3 PubMed: Yauy 2018 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes France Morocco - - - - ? see paper; ..., no short stature; no craniosynostosis; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; cardiovascular abnormalities 1 2 Johan den Dunnen
00465811 Fam3Pat4 PubMed: Yauy 2018 sib - yes France Morocco - - - - ? see paper; ..., craniosynostosis; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities 1 1 Johan den Dunnen
00465812 Fam4Pat5 PubMed: Yauy 2018 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes France Morocco - - - - ? see paper; ..., craniosynostosis; no midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; no dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities 1 2 Johan den Dunnen
00465813 Fam4Pat6 PubMed: Yauy 2018 sib - yes France Morocco - - - - ? see paper; ..., midface hypoplasia; radio ulnar synostosis; no multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities 1 1 Johan den Dunnen
00465819 Fam10 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Spondyloepimetaphyseal dysplasia, cutis laxa, osteoporosis, fracture, multiple bony chondromas and short stature 1 1 Johan den Dunnen
00465852 Pat9 PubMed: Ranza 2017 patient, no family history - yes Tunisia - - - - - ? see paper; ..., intrauterine growth retadation; 4y-short stature (2 SD); normal bone age; joint dislocations genu recurvatum; hands normal; radiocubital synostosis, mild platyspondyly with anterior beaking, swedish key appearance, small epiphyses, club feet; ; microstomia, thin lips, blue sclerae; intellectual disability 1 1 Johan den Dunnen
00465853 Pat10 PubMed: Ranza 2017 patient, no family history - yes Turkey - - - - - ? see paper; ..., no intrauterine growth retadation; 23m-short stature (-1,5 SD); normal bone age; joint dislocations hips; hands long, tapering fingers; radiocubital synostosis, platyspondyly, endplate irregularities, lumbar scoliosis, swedish key appearance, bowing of long bones, osteopenia; bicuspid aortic valve, elastic skin, amelogenesis imperfecta; flat, triangular face, blue sclerae, downslanting palpebral fissures, microstomia, high palate, thin lips; intellectual disability 1 1 Johan den Dunnen
00465854 Pat11 PubMed: Ranza 2017 patient, family history - yes Turkey - - - - - ? see paper; ..., no intrauterine growth retadation; 12y-short stature (-7 SD); ; joint dislocations elbows, hips, knees; hands long, tapering fingers; limited movement of elbows, scoliosis, osteopenia; growth hormone deficiency; broad forehead, round face, blue sclerae; no intellectual disability 1 1 Johan den Dunnen
00465861 private email contact me for details on behalf of patient F - - - - - - - ? connective tissue impairments, joint hypermobility with dislocations, cardiac defects (mitral valve issues), bone fragility 1 1 Johan den Dunnen
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