All individuals with variants in gene PREPL

15 entries on 1 page. Showing entries 1 - 15.
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     
00301724 17-1682 PubMed: Maddirevula 2019 - M - - - - - - - ? intellectual disability (no seizures), short stature, chronic lung disease, and failure to thrive. He looked thin, conscious, alert and oriented. There was no history of weakness or fatigue. There was no ptosis and he had normal extraocular movements. The rest of the cranial nerve examination was normal. Motor examination was normal. no weakness and no fatigable weakness. He had 3 affected brother with same condition. Brain MRI was unremarkable. 1 1 Johan den Dunnen
00438637 HSC0118 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00454656 Fam1PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 36w cesarean section (breech), weight 2,6g, length 44cm; <9y-puberty 1 1 Johan den Dunnen
00454657 Fam2PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 41w induction, weight 3,51g, length 50.5cm; <9y-puberty 1 1 Johan den Dunnen
00454658 Fam8PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - France - - - - - CSNU see paper; ..., birth 41w, weight 3,97g, length 52cm 1 2 Johan den Dunnen
00454659 Fam3PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 40w cesarean section (breech), weight 3,6g, length 50cm; 13.1y-puberty 1 1 Johan den Dunnen
00454660 Fam7PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 40w induction, weight 2,8g, length 49cm; 13.4y-puberty 2 2 Johan den Dunnen
00454661 Fam6PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth weight 3,5 2 1 Johan den Dunnen
00454662 Fam7PatII PubMed: Jaeken 2006 relative F - Belgium - - - - - CSNU see paper; ..., birth 40w, weight 2,89g; 12.5y-puberty 2 1 Johan den Dunnen
00454663 Fam4PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - CSNU see paper; ..., birth 40w cesarean section, weight 3,25g, length 52cm; 13.7y-puberty 1 1 Johan den Dunnen
00454664 Fam8PatII PubMed: Jaeken 2006 relative F - France - - - - - CSNU see paper; ..., birth 41w, weight 2,88g, length 49cm; primary amenorrea 1 1 Johan den Dunnen
00454665 Fam9PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - CSNU see paper; ..., birth 41w, weight 3,45g, length 51cm; 15y-puberty 2 1 Johan den Dunnen
00454666 Fam5PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - CSNU see paper; ..., birth weight 1,91g; 5y-puberty 1 1 Johan den Dunnen
00454716 NGSP66 PubMed: Legati 2016 - F - - - - - - - mitochondrial pshycomotor delay, myopathy 1 1 Daniele Ghezzi
00467805 patient PubMed: Wheeler 2025 2-generation family, 1 affected M - United States - - - - - ? see paper; ..., 1d-macrocephaly, mild hypoglycemia, cyanosis; 1y-global delays, gross motor delay (9m-sit, 11m-crawl), speech delay, frontal bossing, short stature, hypertelorism; 3y-walk; mild pseudohypertrophy forearms/calves ; earning difficulties both parents 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.