All individuals with variants in gene XYLT1

44 entries on 1 page. Showing entries 1 - 44.
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00016858 - PubMed: Bui 2014 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F yes Tunisia Tunisian - - - - DBQD2 birth heigth 37cm; hyperlaxity, respiratory distress, hypotonia, flat face, monkey wrench of the femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 24y heigth 111.5 cm (<-6), mild intellectual disability 1 2 Marianne Vos (LOVD-team)
00016859 - PubMed: Bui 2014 brother of 24581741-Fam1.1 M yes Tunisia Tunisian - - - - DBQD2 birth heigth 41 cm; hypotonia, narrow, thorax, hip dislocation, flat face, monkey wrench femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 20y height 121 cm (<-6), intellectual disability 1 1 Marianne Vos (LOVD-team)
00016881 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) F yes Mauritius Mauritian - - - - DBQD2 birth weight 2000g, lower limb deformity, multiple dislocations (hip, knee), monkey wrench femoral neck, brachymetacarpy, epiphyseal dysplasia; 13y weight 35 kg (-1), height 98 cm (<-6), flessum hips/knees, valgus deformation lower limbs, patella instability, multiple surgeries, toe deformations, mild intellectual disability 1 1 Marianne Vos (LOVD-team)
00016882 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) M yes (Belgium) Belgian - - - - DBQD2 birth at term, weight 2570g, height 39cm, OFC 33 cm; transient respiratory problems neonatal period, flat face, low nasal bridge, blue sclerae, cleft palate, short neck, narrow thorax, short limbs, coronal clefts neonatal period thereafter mild platyspondyly, shortening tubular bones, absent ossification distal femoral epiphyses at birth; 12y9m weight 23.7kg (-3.5), height 109.5cm (-6), span 111cm, OFC 50.8cm (-2), flat face, prominent eyes, low nasal bridge, pectus carinatum, narrow thorax, hyperlaxity of fingers/knees (genua valga), broad feet, toe clinodactyly, intellectual disability 1 1 Marianne Vos (LOVD-team)
00016883 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) ? yes Turkey Turkish - - - - DBQD2 birth term, heigth 44cm; 3.5m height 48.5cm; head control-2m, hip dislocation (right), knee dislocation, simian creases, hypermobile fingers, flat face, blue sclerae; neonatal period advanced carpal ossification, right hip and bilateral knee dislocation; 8m advanced bone age, elbow dislocation; 11m height 56cm; 5y6m height 84cm (-5.5), coarse and round face, full cheek, long philtrum, mild micrognathia, hypermobile fingers, moderate truncal obesity, pectus excavatum; sit-9m, walk-3y 1 1 Marianne Vos (LOVD-team)
00016887 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) ? yes Turkey Turkish - - - - DBQD2 brith term, heigth 43 cm; 52d height 46 cm, round and flat face, epicanthal folds, short extremities and hands, bilateral simian crease; neonatal period monkey wrench, advanced carpal ossification, short metacarpals and phalanges, widened anterior ribs; 9y patella and elbow subluxation, short iliac wings; 13m height 59 cm; 9y height 99 cm; 13y height 109 cm (-9) OFC 53 cm, coarse and round face, blue sclera, proptotic eyes, short extremities, increased lumbar lordosis, hypermobile joints, pectus excavatum, pes planus, truncal obesity; mild intellectual disability, sit-8m, walk-2y 1 1 Marianne Vos (LOVD-team)
00016888 - PubMed: Bui 2014 2-generation family, 1 affected , unaffected heterozygous carrier parents (from same village) ? ? Turkey Turkish - - - - DBQD2 born 36w, heigth 33 cm, weight, 1200 g; cleft palate, subluxation right knee, monkey wrench, advanced carpal ossification, tarsal extra ossification, double proximal femoral epiphyses, short phalanges with short 1st metacarpal; 12m height 50 cm (<-6), hypermobile joints; first 2m respiratory problems; 2y normal motor development 1 1 Marianne Vos (LOVD-team)
00054880 Pat PubMed: Silveira 2016 - F yes (Brazil) - - - - - DBQD2 see paper; ... 1 1 Cynthia Silveira
00108467 28722276-FamPatIII3 PubMed: Hendee 2017, Journal: Hendee 2017 3-generation family, 10 affecteds (6F, 4M), PatIII3 M - United States white - - - - ? Congenital glaucoma Axenfeld-Rieger anomaly myopia sensorineural hearing loss congenital hypothyroidism arterial tortuosity microcephaly delayed eruption of permanent teeth femoral retroversion 1 1 Elena Semina
00210011 23982343-Fam PubMed: Schreml 2014 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes Turkey - - - - - DBQD see paper; ... 1 2 Johan den Dunnen
00210012 27030147-Pat PubMed: Jamsheer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Poland - - - - - DBQD see paper; severe short stature of prenatal onset, joint laxity, psychomotor retardation, multiple radiological abnormalities including short metacarpals, advanced bone age, exaggerated trochanters, ... 2 1 Johan den Dunnen
00210013 27881841-Fam1 PubMed: Guo 2017 2-generation family, affected sisters, unaffected heterozygous carrier parents F - Turkey - - - - - DBQD see paper; ... 1 1 Johan den Dunnen
00210014 27881841-Fam2 PubMed: Guo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - DBQD see paper; ... 1 1 Johan den Dunnen
00210015 26601923-FamPat PubMed: Van Koningsbruggen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - DBQD see paper; neonatal short limb skeletal dysplasia with serious medical complication, ... 2 1 Johan den Dunnen
00210016 28462984 PubMed: Al-Jezawi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents (cousins) M yes United Arab Emirates - - - - - DBQD see paper; ... 1 1 Johan den Dunnen
00210017 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 1 Johan den Dunnen
00210018 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 6 Johan den Dunnen
00210019 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 10 Johan den Dunnen
00210020 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 1 Johan den Dunnen
00210021 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 21 Johan den Dunnen
00210022 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 56 Johan den Dunnen
00210023 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 1 Johan den Dunnen
00210024 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - PXE - 1 17 Johan den Dunnen
00210039 30554721-Fam01Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 3 1 Johan den Dunnen
00210040 30554721-Fam02Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 4 1 Johan den Dunnen
00210041 30554721-Fam03Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 2 1 Johan den Dunnen
00210042 30554721-Fam04Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 3 1 Johan den Dunnen
00210043 30554721-Fam05Pat1 PubMed: LaCroix 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 3 2 Johan den Dunnen
00210044 30554721-Fam05Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 4 1 Johan den Dunnen
00210045 30554721-Fam06Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 3 1 Johan den Dunnen
00210046 30554721-Fam07Pat1 PubMed: LaCroix 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 2 2 Johan den Dunnen
00210047 30554721-Fam07Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 3 1 Johan den Dunnen
00210048 30554721-Fam08Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 2 1 Johan den Dunnen
00210049 30554721-Fam09Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 1 1 Johan den Dunnen
00210050 30554721-Fam10Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - BSS see paper; short stature, facial dysmorphisms, developmental delay, skeletal dysplasia, … 1 1 Johan den Dunnen
00210719 25480529-con PubMed: Faust 2014 analysis 100 controls F;M - Germany - - - - - Healthy/Control - 2 70 Johan den Dunnen
00210720 25480529-con PubMed: Faust 2014 100 controls F;M - Germany - - - - - Healthy/Control - 1 26 Johan den Dunnen
00210721 25480529-con PubMed: Faust 2014 100 controls F;M - Germany - - - - - Healthy/Control - 1 6 Johan den Dunnen
00291396 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00291397 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 20 Mohammed Faruq
00304504 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00427729 C1 PubMed: Palmer 2022 2-generation family, affected brother/sister, asymptomatic carrier mother M - - Europe;white - - - - DBQD, NDD see paper; ..., mild-moderate intellectual disability; Infantile hypotonia; recurrent otitis media, hearing aides; normal vision; Not described.; delayed speech; features on the autism spectrum and obsessiveness; 3m-onset seizures, mixed semiology focal, febrile and non febrile associated, and atonic (drop) attacks; MRI brain normal; height <0.4th centile; OFC 0.4-3rd centile; consistent with desbuquois dysplasia. almond shaped eyes, short upturned nose; constipation; short stature secondary to desbuquois dysplasia; sister has also cleft palate 2 2 Johan den Dunnen
00465849 Pat5 PubMed: Ranza 2017 patient, no family history - yes Turkey - - - - - ? see paper; ..., short stature (-7 SD); ; advanced bone age; joint dislocations genu varus, joint limitations (elbows, knees, hips, ankles); hands short hands, brachytelephalangy, brachymetacarpy iv-v, brachydactyly, transverse palmar creases; short feet, narrow lumbar canal, cervical fusions C2–C3–C4, rhizomely; obesity; coarse face, anteverted nares, white sparsed hair; intellectual disability 1 1 Johan den Dunnen
00465850 Pat6 PubMed: Ranza 2017 patient, no family history - - Turkey - - - - - ? see paper; ..., intrauterine growth retadation; short stature (-6.5 SD); advanced bone age; joint dislocations hips, right knee; hands short phalanges with short first metacarpal; Swedish key appearance, double proximal femoral epiphyses, tarsal extra ossification; respiratory distress initially; prominent eyes; intellectual disability 1 1 Johan den Dunnen
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