All individuals with variants in gene TH

28 entries on 1 page. Showing entries 1 - 28.
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     
00054876 Pat20 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - DYT5 pure hereditary spastic paraplegia 1 1 Erik-Jan Kamsteeg
00290342 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00290343 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00308031 Pat10 PubMed: Mahler 2019 2-generation family, several affected, unaffected heterozygous carrier parents - no Germany - - - - - ? mild global developmental delay, regression, hypotonia 2 2 Johan den Dunnen
00361539 15DG1573 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, axial hypotonia, appendicular hypertonia 1 1 Johan den Dunnen
00372033 178193 - - M ? Germany - - - - - Segawa Clinical Segawa syndrome; Dopa-responsive Dystonia 2 1 Andreas Laner
00374345 S-2482 PubMed: Ganapathy 2019 - - - India - - - - - ? Features suggestive of dystonia 2 1 Johan den Dunnen
00374873 S-5861 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00411611 - - - - - - - - - - - Segawa - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00411991 family PubMed: Ludecke 1995 2-generation family, 2 affected, unaffected heterozygous carrier parents/relatives - - Germany - - - - - Segawa see paper; ... 1 2 Johan den Dunnen
00412080 patient PubMed: Ludecke 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Greece - - - - - PARK see paper; ... 1 1 Johan den Dunnen
00412081 Fam1 PubMed: Van Den Heuvel 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Netherlands - - - - - DYT see paper; ..., L-DOPA-responsive dystonia 1 1 Johan den Dunnen
00412082 Fam2 PubMed: Van Den Heuvel 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Netherlands - - - - - DYT see paper; ..., L-DOPA-responsive dystonia 1 1 Johan den Dunnen
00412083 Fam3 PubMed: Van Den Heuvel 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Netherlands - - - - - DYT see paper; ..., L-DOPA-responsive dystonia 1 1 Johan den Dunnen
00412084 PatII PubMed: Brautigam 1998, PubMed: Wevers 1999 parents F no Netherlands - - - - - DYT see paper; ..., L-DOPA-responsive dystonia 1 1 Johan den Dunnen
00412085 PatIII PubMed: Brautigam 1998, PubMed: Wevers 1999 parents M no Netherlands - - - - - DYT see paper; ..., L-DOPA-responsive dystonia 1 1 Johan den Dunnen
00412086 PatIV PubMed: Brautigam 1998, PubMed: Wevers 1999 parents F no Netherlands - - - - - DYT see paper; ..., L-DOPA-responsive dystonia 1 1 Johan den Dunnen
00412087 PatI PubMed: Brautigam 1998, PubMed: Wevers 1999 parents M no Netherlands - - - - - DYT see paper; ..., L-DOPA-responsive dystonia 2 1 Johan den Dunnen
00412088 FamA PMID:Swaans 2000:11246459} 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - - - - - - - DYT see paper; ... 2 2 Johan den Dunnen
00412089 FamB PubMed: Swaans 2000 - M - Belgium - - - - - DYT see paper; ... 2 1 Johan den Dunnen
00412090 fa PubMed: Janssen 2000 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Germany white - - - - ? see paper; ..., severe extrapyramidal movement disorder 2 1 Johan den Dunnen
00412107 Fam1Pat1 PubMed: Verbeek 2007 - M yes Italy - - - - - DYT see paper; ... 1 1 Johan den Dunnen
00412108 Fam2Pat1 PubMed: Verbeek 2007 - M no Netherlands - - - - - DYT see paper; ... 2 1 Johan den Dunnen
00412109 Fam3Pat1/2 PubMed: Verbeek 2007 2-generation family, affected brother/sister F;M yes Turkey - - - - - DYT see paper; ... 1 2 Johan den Dunnen
00412110 Fam4Pat1/2 PubMed: Verbeek 2007 2-generation family, affected brother/sister F;M yes Lebanon - - - - - DYT see paper; ... 1 2 Johan den Dunnen
00412111 Fam5Pat1 PubMed: Verbeek 2007 - M no Fiji;India - - - - - DYT see paper; ... 2 1 Johan den Dunnen
00412174 patient PubMed: Brautigam 1999 - M yes Italy - - - - - ? see paper; ..., respiratory distress, progressive hypotonia, dysphagia, hypokinesia, reduced facial mimicry 2 1 Johan den Dunnen
00412175 Fam8600041 PubMed: Najmabadi 2011 family, 3 affected sibs - yes Iran - - - - - ID see paper; ..., severe intellectual disability, infantile parkinsonism, Segawa’s syndrome 1 3 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.