All individuals with variants in gene VAMP2

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     
00181522 Pat1 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; no epileptic seizures; EEG-high-voltage delta activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, flapping, dystonic postures; central visual defects; no speech; MRI brain thin corpus callosum, delayed myelination; inability to walk 1 1 Stephanie Efthymiou
00181523 Pat2 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures, generalized tonic-clonic seizures; EEG-fast rhythmic activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features body rocking, head banging, screaming, absent purposeful hand movements; generalized chorea; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, self-injury, inability to walk 1 1 Stephanie Efthymiou
00181524 Pat3 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; infantile spasms, convulsive status epilepticus; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, myoclonic jerks; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, inability to walk, severe constipation 1 1 Stephanie Efthymiou
00181525 Pat4 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures; EEG-generalized and multifocal abnormalities; autism spectrum disorder; RTT-like features stereotyped hand movements (wringing), absent purposeful hand movements; no movement disorder; no central visual defects; speech only 5–10 spoken words; MRI brain unremarkable; clumsiness, abnormal behavior 1 1 Stephanie Efthymiou
00181526 Pat5 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; moderate intellectual disability; no epileptic seizures; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements (washing); no movement disorder; no central visual defects; speech only 5 words; MRI brain unremarkable; abnormal behavior 1 1 Stephanie Efthymiou
00464334 321406 - - M no Germany - - - - - NEDHAHM Neurodevelopmental delay, Intellectual disability 1 1 Andreas Laner
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.