All individuals with variants in gene NTRK2

8 entries on 1 page. Showing entries 1 - 8.
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     
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00434154 253946 - - F no Portugal - - - - - DEE58 Neonatal hypotonia, Global developmental delay 1 1 Andreas Laner
00438626 HSC0103 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) M - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., severe, global developmental delay; 3d-seizure; infantile spasms; EEG modified hyps; MRI brain optic nerve hypoplasia; limb hypertonia, hyperreflexia, acquired microcephaly, visual impairment, swallowing difficulties, intractable seizures 1 1 Johan den Dunnen
00438650 HSJ0335 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00438728 indvSLIJ PubMed: Hamdan 2017 - M - United States - - - - - DEE see paper; ..., severe intellectual disability; autism spectrum disorder; 12h-seizure, recurrent at 5y; EEG diffuse slowing, temporal intermittent rhythmic delta frequency activity; MRI brain optic nerve hypoplasia; hypotonia, lower-limb spasticity, visual impairment, seizures controlled on oxcarbazepine for 1m 1 1 Johan den Dunnen
00438729 T25821 PubMed: Hamdan 2017 - F - - Jew-Ashkenazi - - - - DEE see paper; ..., severe global developmental delay, severe intellectual disability; 4m-seizure; EEG multifocal hyps; MRI brain optic nerve hypoplasia, myelination delay; acquired microcephaly, hypotonia, subtle choreoathetosis, visual impairment, feeding difficulties, intractable seizures, high tolerance to painful stimuli 1 1 Johan den Dunnen
00438730 HF303 PubMed: Hamdan 2017 - M - United States - - - - - DEE see paper; ..., severe global developmental delay, suspected severe intellectual disability, autism spectrum disorder; 4m-seizure; EEG diffuse slowing, multifocal; MRI brain optic nerve hypoplasia; limb hypotonia, visual impairment, swallowing difficulties, intractable seizures, high tolerance to painful stimuli (parents report) 1 1 Johan den Dunnen
00438731 HSJ0335 PubMed: Hamdan 2017 - F - Guatemala - - - - - DEE see paper; ..., severe global developmental delay, moderate/severe intellectual disability, autism spectrum disorder; 23m-febrile seizure; 2y6m-seizure; EEG normal, diffuse slowing after seizure; MRI brain delayed myelination, reduced white-matter tracts, ventriculomegaly, thin corpus callosum; swallowing difficulties, 3y-hyperphagia; no seizures for 2 years under CBZ 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.