All individuals with variants in gene HIVEP2

12 entries on 1 page. Showing entries 1 - 12.
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     
00019907 - PubMed: Gilissen 2014 - ? ? - - - - - - ID - 1 1 Marianne Vos (LOVD-team)
00038503 Pat1 PubMed: Srivastava 2016 2-generation family, 1 affected, unaffected non-carrier parents F no - white - - - - ? see paper; ..., intellectual disability, hypotonia, thin corpus callosum, physiological jaundice, left hip dysplasia requiring placement in harness for several months. 1 1 Siddharth Srivastava
00038504 Pat2 PubMed: Srivastava 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - ? see paper; ..., intellectual disability, hypotonia, corpus callosum hypoplasia 1 1 Siddharth Srivastava
00038505 Pat3 PubMed: Srivastava 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Germany - - - - - ? see paper; ..., intellectual disability, hypotonia, slight microcephaly, mild frontal atrophy 1 1 Siddharth Srivastava
00146564 - - - F - (Germany) - - - - - ? HP:0001256 (Intellectual disability, mild) 1 1 IMGAG
00334919 175865 - - F ? Germany - - - - - MRD (+) Behavioral abnormality,(+) Delayed speech and language development,(+) Hyperactivity,(+) Constipation,(+) Attention deficit hyperactivity disorder,(+) Abnormal social behavior; brother also affected, not tested yet 1 1 Andreas Laner
00390641 186648 - - F no Germany - - - - - MRD Thick lower lip vermilion, Flared nostrils, Hyperopic astigmatism, Strabismus, Deeply set eye, Thick eyebrow, Stereotypy, Global developmental delay, Absent speech, Localized hirsutism, Thickened ears, Delayed ability to walk, Recurrent hand flapping 1 1 Andreas Laner
00438335 Pat53 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0011747 abnormality of the anterior pituitary; HP:0011756 posterior pituitary agenesis; HP:0001263 global developmental delay; HP:0002133 status epilepticus; HP:0012387 bronchitis; HP:0002573 hematochezia; HP:0001903 anemia; HP:0004360 abnormality of acid-base homeostasis; HP:0003073 hypoalbuminemia 1 1 Johan den Dunnen
00438572 HSC0020 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00458255 - - - F - - (not applicable) white - - - - NDD HP:0001249, HP:0000271 1 1 Marketa Wayhelova
00458524 Pat1 PubMed: Devanna 2018 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ID - 1 1 Johan den Dunnen
00462300 051-039-KUY PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - ? 20gw-triventriculomegaly, occipital encephalocele 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.