All individuals with variants in gene ECEL1

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00248340 FamPatV1/2 PubMed: Dohrn 2015 5-generation family, 2 affected female fetuses, unaffected heterozygous carrier parents/relatives F yes Sudan - - - - - arthrogryposis see paper; ... 1 2 Johan den Dunnen
00248436 Fam1Pat1 PubMed: McMillin 2013 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents - no India Indian;Europe (east) - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 2 4 Johan den Dunnen
00248437 Fam1Pat2 PubMed: McMillin 2013 - - yes India Indian - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 1 1 Johan den Dunnen
00248438 Fam1Pat3 PubMed: McMillin 2013 - - yes India Indian - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 1 1 Johan den Dunnen
00248439 Fam2Pat1 PubMed: McMillin 2013 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 2 2 Johan den Dunnen
00248440 Fam2Pat2 PubMed: McMillin 2013 - - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 2 1 Johan den Dunnen
00248441 Fam3Pat1 PubMed: McMillin 2013 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 2 2 Johan den Dunnen
00248442 Fam3Pat2 PubMed: McMillin 2013 - - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 2 1 Johan den Dunnen
00248443 Fam4Pat1 PubMed: McMillin 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - no India Indian - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 1 1 Johan den Dunnen
00248444 Fam5Pat1 PubMed: McMillin 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 2 1 Johan den Dunnen
00248445 Fam1Pat1 PubMed: Dieterich 2013 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage 1 4 Johan den Dunnen
00248446 Fam1Pat2 PubMed: Dieterich 2013 - - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage 1 1 Johan den Dunnen
00248447 Fam1Pat3 PubMed: Dieterich 2013 - - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound 1 1 Johan den Dunnen
00248449 Fam2Pat1 PubMed: Dieterich 2013 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Belgium - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; born at term, breech presentation 1 2 Johan den Dunnen
00248450 Fam2Pat2 PubMed: Dieterich 2013 - F yes Belgium - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; reduced fetal movement, born at term 1 1 Johan den Dunnen
00248451 Fam3Pat1 PubMed: Dieterich 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Martinique - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; reduced fetal movement, intrauterine growth retardation, born at term, breech presentation; unaffected muscle type‐I‐fiber predominance 2 1 Johan den Dunnen
00248452 Fam4Pat1 PubMed: Dieterich 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, born at term 1 1 Johan den Dunnen
00248453 Fam5Pat1 PubMed: Dieterich 2013 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Morocco - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, intrauterine growth retardation, born at term; moderate lipid storage unaffected muscle 1 2 Johan den Dunnen
00248454 Fam5Pat2 PubMed: Dieterich 2013 - M yes Morocco - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, intrauterine growth retardation, born at term 1 1 Johan den Dunnen
00248455 Fam6Pat1 PubMed: Dieterich 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Lebanon - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia 1 1 Johan den Dunnen
00248456 Fam1Pat1 PubMed: Shaaban 2014 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - yes Turkey Turkish - - - - ? see paper; …, extension contractures of knees; camptodactyly, scoliosis, ophthalmoplegia, astigmatism; unremarkable pregnancy, normal amount of amniotic fluid, normal fetal movement, birth weight 3.1 kg; fibrosis affected muscle 1 2 Johan den Dunnen
00248457 Fam1Pat2 PubMed: Shaaban 2014 - - yes Turkey Turkish - - - - ? see paper; …, extension contractures of knees; camptodactyly, scoliosis, ophthalmoplegia, astigmatism; unremarkable pregnancy, born at term, normal fetal movement, birth weight 3.0 kg; fibrosis affected muscle 1 1 Johan den Dunnen
00248458 Fam1Pat1 PubMed: Shaheen 2014 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus 1 4 Johan den Dunnen
00248459 Fam1Pat2 PubMed: Shaheen 2014 - - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus 1 1 Johan den Dunnen
00248460 Fam1Pat3 PubMed: Shaheen 2014 - - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; normal pregnancy, born at term 1 1 Johan den Dunnen
00248461 Fam1Pat4 PubMed: Shaheen 2014 - - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus 1 1 Johan den Dunnen
00248462 Fam2Pat1 PubMed: Shaheen 2014 5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - yes Egypt Upper Egypt - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; reduced fetal movement, abnormal position 1 2 Johan den Dunnen
00248463 Fam2Pat2 PubMed: Shaheen 2014 - - yes Egypt Upper Egypt - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; reduced fetal movement 1 1 Johan den Dunnen
00248464 Fam3Pat1 PubMed: Shaheen 2014 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents - yes Saudi Arabia Saudi - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; breech presentation, C‐section, arthrogryposis multiplexa congenita at birth 1 3 Johan den Dunnen
00248465 Fam3Pat2 PubMed: Shaheen 2014 - - yes Saudi Arabia Saudi - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; arthrogryposis multiplexa congenita at birth 1 1 Johan den Dunnen
00248466 Fam3Pat3 PubMed: Shaheen 2014 - - yes Saudi Arabia Saudi - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; arthrogryposis multiplexa congenita at birth 1 1 Johan den Dunnen
00248467 Fam1Pat1 PubMed: Barnett 2014 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - no Australia;Philippines white Australian;Filipino - - - - arthrogryposis see paper; …, extension contractures hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; noraml ultra-sound, normal fetal movement, breech presentation; 41wGA-C‐section, birth weight 3.8 kg 2 2 Johan den Dunnen
00248468 Fam1Pat2 PubMed: Barnett 2014 - - no Australia;Philippines white Australian;Filipino - - - - arthrogryposis see paper; …, extension contractures hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; 19wGA-arthrogryposis multiplexa congenita on ultra-sound, abnormal posturing limbs, no movement in knees, clubfoot, hands in clenched position, born at term, birth weight 3.5 kg 2 1 Johan den Dunnen
00292632 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292633 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307203 D16-0968 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA antenatal onset; arthrogryposis multiplex congenita; unilateral ptosis; nonprogressive muscle weakness 1 1 Gianina Ravenscroft
00307210 D16-1653 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA flexion contracture (multiple); aortic root aneurysm; progressive sensorineural hearing impairment; midface retrusion; micrognathia 2 1 Gianina Ravenscroft
00307228 D18-0102 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA progressive distal; muscle weakness; lower limb muscle weakness onset (assymetric L>R); elevated serum creatine kinase; myopathy 1 1 Gianina Ravenscroft
00442659 Pat31 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.