All individuals with variants in gene ERCC1

6 entries on 1 page. Showing entries 1 - 6.
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     
00292157 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 14 Mohammed Faruq
00306116 Pat165TOR PubMed: Jaspers 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Italy white 00y14m - - - COFS pregnancy intrauterine growth retardation; birth 37w, weight, length, and OFC <3rd percentile; microcephaly, premature closure of fontanels, bilateral microphthalmia, blepharophimosis, high nasal bridge, short filtrum, micrognathia, low-set ears, posterior-rotated ears, arthrogryposis with rocker-bottom feet , flexion contractures hands, bilateral congenital hip dislocation; X-rays no spine abnormalities; NMR simplified gyral pattern, cerebellar hypoplasia; mild hypoplasia kidneys with normal structure and function; echography no congenital heart defects; no genital abnormalities, no retinopathy; failure to thrive, tube feeding, did not pass any developmental milestone; 14m-deceased of respiratory failure due to bilateral pneumonia, weight 4.5 kg, height 56 cm, OFC 38 cm 2 1 Johan den Dunnen
00306117 PatCS20LO PubMed: Kashiyama 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 02y06m - - - CS uneventful antenatal period;4-6m microcephaly, micrognathia, contractures knees and elbows, hypertonic, dislocated radial head, deep-set eyes, skeletal abnormalities, camptodactyly, adducted thumbs, stiff limbs, steeply sloping acetabulae, wrist contracture, slender long bones with mildly flared metaphyses, moderate kyphoscoliosis; brisk reflexes, no feeding problems; MRI brain at birth possible polymicrogyria; NMR 4m-large bilateral subdurals (>2 cm in depth), no major visible malformations; ECG 9m-abnormal; 16m-nystagmus, no other ophthalmic abnormalities, corneas completely clear, no cataracts; 2.5y-deceased 1 1 Johan den Dunnen
00306118 PatXP202DC Imoto 2007, J Invest Dermatol 127 Supp. Abs547 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 37y - - - XP progressive neurodegeneration, dementia, severe generalized brain atrophy (onset 15y); deceased 37y 2 1 Johan den Dunnen
00311011 FamPatPV50LD - 2-generation family, 2 affected sisters, unaffected parents F no Australia - - - - - ? ocular photosensitivity, skin photosensitivity (HP:0000992), renal dysfunction, liver dysfunction (HP:0001410), ovarian insufficiency (HP:0008209); 9y10m-orthotopic liver transplantation 2 2 Martijn S. Luijsterburg
00311062 FamPatPV46LD - sister F - Australia - - - - - ? ocular photosensitivity, skin photosensitivity (HP:0000992), renal dysfunction, liver dysfunction (HP:0001410), intellectual disability (HP:0001249); 8y-orthotopic liver transplantation 2 1 Martijn S. Luijsterburg
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.