All individuals with variants in gene B4GALT7

35 entries on 1 page. Showing entries 1 - 35.
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00011668 Pat22 PubMed: Cartault 2015, Journal: Cartault 2015 large multi-generation family, 22 afecteds, unaffected heterozygote carriers F - Reunion white - - - - EDS birth length 38 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis 1 22 Francois Cartault
00050391 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? severe short stature, disproportionate short-limb short stature, joint hypermobility, lumbar hyperlordosis, relative macrocephaly, high-grade hypermetropia, short nose, narrow mouth 2 1 Johan den Dunnen
00050671 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? radioulnar synostosis, osteopenia, ventriculomegaly, cleft palate, bilateral single transverse palmar creases, abnormality of male external genitalia, gastroesophageal reflux, optic nerve hypoplasia, micrognathia, generalized hypotonia, vertebral compression fractures, lumbar hemivertebrae, hypermetropia, 2-3 toe syndactyly, hemimegalencephaly, mild short stature 2 1 Johan den Dunnen
00301633 patient PubMed: Okajima 1999, PubMed: Almeida 1999, PubMed: Kresse 1987, PubMed: Quentin 1990, PubMed: Furukawa 2002, PubMed: Gotte 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Denmark - - - - - EDS see papers; ..., short stature, limb anomalies 2 1 Johan den Dunnen
00301634 family PubMed: Faiyaz-Ul-Haque 2004 PubMed: Walker 2004 PubMed: Seidler 2006 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives - yes Qatar Arab - - - - EDS see paper; ..., short stature, limb anomalies 1 2 Johan den Dunnen
00301635 patient PubMed: Guo 2013, PubMed: Guo 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - EDS see paper; ..., short stature, limb anomalies 2 1 Johan den Dunnen
00301636 Pat1 PubMed: Caraffi 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - EDS see paper; ..., short stature, hypotonia, joint hypermobility, skeletal features, prominent forehead, thin soft tissue and prominent eyes; 2 1 Johan den Dunnen
00301637 Pat1 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 43 cm, adult height 113 cm, BMI 38; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations bilateral hips and elbows, right shoulder, right wrist; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis 1 1 Francois Cartault
00301638 Pat2 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 42 cm, adult height 130 cm, BMI 32.5; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, left shoulder; no brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301639 Pat3 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 46 cm, 14y-height 132 cm, BMI 25.2; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, right wrist, shoulders; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; right Genu recurvatum 1 1 Francois Cartault
00301640 Pat4 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 42.5 cm, adult height 122 cm, BMI 45.9; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, left patella; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301641 Pat5 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 43 cm, adult height 127 cm, BMI 16.7; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left shoulder; no advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301642 Pat6 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 39 cm, adult height 127 cm, BMI 24.8; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations right knee, shoulders, fingers; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; bilateral Genu recurvatum 1 1 Francois Cartault
00301643 Pat7 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 41 cm, 10y-height 111 cm, BMI 14.6; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations right knee; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301644 Pat8 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length ? cm, adult height 112 cm, BMI 32.8; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; cleft palate; scoliosis/kyphosis; joint dislocations right hip, right knee; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis; bilateral Genu recurvatum 1 1 Francois Cartault
00301645 Pat9 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 39 cm, adult height 138 cm, BMI 39.3; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; no scoliosis/no kyphosis; joint dislocations bilateral elbows and knees; no advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301646 Pat10 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 38 cm, adult height 121 cm, BMI 17; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, patella, bilateral wrist, right shoulder; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301647 Pat11 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 41 cm, adult height 131 cm, BMI 17.1; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; bilateral Genu recurvatum 1 1 Francois Cartault
00301648 Pat12 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 42 cm, BMI 17.5; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left hip, knees; no advanced bone age; Swedish key; no radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301649 Pat13 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 40 cm, adult height 128 cm, BMI 20; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; Megalocornea; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left knee, fingers; advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301650 Pat14 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS deceased; birth length 43 cm, adult height 132 cm, BMI 20.8; facial dysmorphism; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations shoulders, hips, knees; radioulnar synostosis; bilateral Genu recurvatum 1 1 Francois Cartault
00301651 Pat15 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 39 cm, adult height 117 cm, BMI 41.1; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations elbows, right hip, patella, fingers; advanced bone age; no brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; no radioulnar synostosis; bilateral Genu recurvatum 1 1 Francois Cartault
00301652 Pat16 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 38.5 cm, adult height 120 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, hips; no Swedish key; no radioulnar synostosis; bilateral Genu recurvatum 1 1 Francois Cartault
00301653 Pat17 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 41 cm, adult height 127 cm; facial dysmorphism; no cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; scoliosis/kyphosis; joint dislocations knees; no advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301654 Pat18 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS birth length 45 cm, adult height 120 cm, BMI 19.8; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, elbows; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301655 Pat19 PubMed: Cartault 2015, Journal: Cartault 2015 - F - Reunion - - - - - EDS BMI 31.25; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations hips, elbows, knees; advanced bone age; brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; Swedish key; no radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301656 Pat20 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 42 cm, adult height 133 cm; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations left shoulder, knees, elbows; radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301657 Pat21 PubMed: Cartault 2015, Journal: Cartault 2015 - M - Reunion - - - - - EDS birth length 44 cm, adult height 131 cm, BMI 26.3; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations knees, elbows, fingers; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; no radioulnar synostosis; no Genu recurvatum 1 1 Francois Cartault
00301674 Pat1 PubMed: Salter 2016 - M - United Kingdom (Great Britain) - - - - - EDS see paper; ..., short stature, joint hypermobility, radioulnar synostosis, hypermetropia, severe osteopenia 2 1 Johan den Dunnen
00301675 Pat2 PubMed: Salter 2016 - F - United Kingdom (Great Britain) - - - - - EDS see paper; ..., short stature, joint hypermobility, radioulnar synostosis, severe hypermetropia 2 1 Johan den Dunnen
00301676 patient PubMed: Arunrut 2016 - F - United States - - - - - EDS see paper; ..., global developmental delay, pre‐ and post‐natal growth restriction, striking joint laxity with soft skin, scoliosis; triangular face, prominent forehead, proptosis, small nose, small jaw; corneal clouding, colobomas iris and optic nerve, posterior subcapsular cataracts 1 1 Johan den Dunnen
00301677 patient PubMed: Mihalic Mosher 2019 2-generation family, 3 affected pregnancies, unaffected heterozygous carrier parents - - United States - - - - - EDS see paper; ..., 3 affected pregnancies showing short limbs, cystic hygroma, perinatal death; 2 spontaneously aborted; 1 survived 1 day after term delivery short limbs, bell-shaped thorax, 11 ribs, absent thumbs, cleft palate 2 1 Johan den Dunnen
00301678 patient PubMed: Ritelli 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Morocco - - - - - EDS see paper; ..., short stature, skin hyperextensibility, facial dysmorphisms, no radioulnar synostosis, muscle hypotonia, joint laxity, no intellectual disability, neurosensorial hearing loss, limb edema of lymphatic origin 1 1 Johan den Dunnen
00319462 - PubMed: Wang et al., 2020 The variants were detected by medical exome sequencing of 95 patients with clinical manifestations of intellectual disability.The technique used was the custom NGS Gene panel. The technique used was whole genome sequencing. - - - - - - - - ? Intellectual disability, 2 1 Raymond Dalgleish
00319463 - PubMed: Sandler-Wilson et al., 2019 The patient had a female sibling who also carried both variants and was diagnosed with spEDS. The technique used was whole exome sequencing. - - - Partly French - - - - EDS, EDSSPD1 - 2 1 Raymond Dalgleish
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