All individuals with variants in gene IARS2

14 entries on 1 page. Showing entries 1 - 14.
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     
00163754 Fam1PatV3 PubMed: Vona 2018 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - Yes - CAGSSS bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), central adrenal insufficiency, growth hormone deficiency, no hypoglycemic episodes, congenital type II esophageal achalasia, short stature, no hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, chronic sensorimotor distal axonal polyneuropathy; 13y-moderate bilateral sensorineural hearing loss 1 1 Barbara Vona
00163757 FamPatVII1 PubMed: Schwartzentruber 2014 7-generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents/relatives M yes Canada French-Canadian - - - - CAGSSS see paper; ..., 1m-bilateral nystagmus (HP:0000639), 17m-cataract (HP:0000518), 5y-progressive corneal opacification (HP:0007759), adrenal insufficiency, growth hormone deficiency, hypoglycemic episodes, 2y-bilateral sensorineural stable hearing, 32y-type II esophageal achalasia, disproportionate short stature, 2y-hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, mild neurodevelopment delay, no intellectual disability, 9y6m-peripheral neuropathy 1 3 Johan den Dunnen
00163758 Fam2Pat4 PubMed: Schwartzentruber 2014 - M - United States white, Scandinavian 01y06m - - - ? see paper; ..., 18m-deceased, no bilateral nystagmus (-HP:0000639), no cataract (-HP:0000518), no corneal opacification (-HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, no short stature, no hip dislocation, no scoliosis, no spondylo-epimeta-physeal dysplasia, Leigh syndrome features, no West syndrome, neurodevelopment delay, no peripheral neuropathy 2 1 Johan den Dunnen
00181201 Fam2PatIV1 PubMed: Vona 2018 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - CAGSSS bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, no spine abnormality, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, reduced bone density, no Leigh syndrome, no West syndrome, no intellectual disability, no peripheral neuropathy 1 2 Barbara Vona
00296727 Fam2PatIV4 PubMed: Vona 2018 sister F - Iran - - - - - CAGSSS bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no congenital type II esophageal achalasia, short stature, no hip dislocation, no scoliosis, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, no Leigh syndrome, no West syndrome, no neurodevelopment delay, no intellectual disability, no peripheral neuropathy 1 1 Johan den Dunnen
00296728 FamPat2 PubMed: Schwartzentruber 2014, - F yes Canada French-Canadian - - - - CAGSSS see paper; ..., 5m-bilateral nystagmus (HP:0000639), 5m-cataract (HP:0000518), 5y-corneal opacification (HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 21m-moderate bilateral sensorineural hearing loss, no type II esophageal achalasia, short stature, congenital hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, early childhood peripheral neuropathy 1 1 Johan den Dunnen
00296729 FamPat3 PubMed: Schwartzentruber 2014 - M yes Canada French-Canadian - - - - CAGSSS see paper; ..., 3m-bilateral nystagmus (HP:0000639), 3m-cataract (HP:0000518), 16y5m-corneal opacification (HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, 18m-hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, 8m-peripheral neuropathy 1 1 Johan den Dunnen
00296730 Pat PubMed: Moosa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Denmark - - - - - CAGSSS see paper; ..., bilateral nystagmus (HP:0000639), 3y-cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 8y-bilateral sensorineural hearing loss, no type II esophageal achalasia, disproportionate short stature (-6SD), congenital hip dislocation, abnormal vertebral bodies, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, peripheral neuropathy, early childhood pain insensitivity 1 1 Johan den Dunnen
00296731 FamPatII1 PubMed: Takezawa 2018 2-generation family, 2 sisters, unaffected heterozygous carrier parents F - Japan - - - - - ? see paper; ..., no bilateral nystagmus (-HP:0000639), congenital cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, spinal abnormalities, no spondylo-epimeta-physeal dysplasia, Leigh syndrome, West syndrome, neurodevelopment delay, no peripheral neuropathy 2 2 Johan den Dunnen
00296732 FamPatII2 PubMed: Takezawa 2018 sister F no Japan - - - - - ? see paper; ..., no bilateral nystagmus (-HP:0000639), no cataract (-HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, spinal abnormalities, no spondylo-epimeta-physeal dysplasia, Leigh syndrome, West syndrome, neurodevelopment delay, no peripheral neuropathy 2 1 Johan den Dunnen
00331483 15DG2022 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Congenital cataract, Growth hormone deficiency, Bilateral conductive hearing impairment No 1 1 LOVD
00390427 G001037 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00444340 FamPat6 PubMed: Li 2018 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - CTRCT perinuclear cararact 2 1 Johan den Dunnen
00444341 Fam10PatII1/2 PubMed: Li 2018 2-generation family, 2 affected brothers, unaffected heterozygous parents M - China - - - - - CTRCT cataract 2 2 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.