Disease #00431 (CILD25 (dyskinesia, ciliary, primary, type 25 (CILD-25)), OMIM:615482)

Official abbreviation CILD25
Name dyskinesia, ciliary, primary, type 25 (CILD-25)
OMIM ID 615482
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 12
Phenotype entries for this disease -
Associated with 1 gene DYX1C1
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-21 17:04:15 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00017600 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - CILD25 situs inversus totalis, fertility unknown, chronic obstructive airway disease, chronic bronchitis, chronic cough, gastroesophageal reflux DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017601 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother M no Germany - - - - - CILD25 situs inversus totalis, fertility unknown, recurrent otitis media, chronic obstructive airway disease, learning disability, congnitive dysfunction DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017602 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - CILD25 situs inversus totalis, fertility unknown, recurrent otitis media, recurrent sinusitis DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017603 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Belgium - - - - - CILD25 situs solitus, infertile (treated, 3 daugthers by assisted reproduction), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, recurrent pneumonia, chronic obstructive airway disease DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017604 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Australia - - - - - CILD25 situs solitus, infertile (immotile sperm), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, middle lobe parenchymal changes DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017605 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - CILD25 situs ambiguus (dextrocardia, polysplenia), fertility not applicable, neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017606 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - CILD25 situs solitus, fertility unknown, neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017607 - PubMed: Tarkar 2013 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, affected sister of UNC-159 F no United States - - - - - CILD25 situs solitus, infertile, recurrent sinusitis DYX1C1 DYX1C1 2 2 Johan den Dunnen
00017608 - PubMed: Tarkar 2013 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, affected sister of UNC-158 F no United States - - - - - CILD25 situs inversus totalis, infertile, recurrent otitis media, recurrent sinusitis, bronchiectasis DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017609 - PubMed: Tarkar 2013 - M no Australia - - - - - CILD25 situs inversus totalis, infertile (immotile sperm), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017610 - PubMed: Tarkar 2013 - M yes United Kingdom (Great Britain) - - - - - CILD25 situs solitus, fertility unknown, neonatal respiratory distress, chronic rhinitis since infancy, chronic wet cough, microcephaly and learning disability DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017611 - PubMed: Tarkar 2013 - F yes United Kingdom (Great Britain) - - - - - CILD25 situs ambiguus (left atrial isomerism, polysplenia), fertility not applicable, neonatal respiratory distress, chronic rhinitis since infancy, chronic wet cough, bronchiectasis, recurrent otitis media DYX1C1 DYX1C1 2 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.