Disease #00431

Official abbreviation CILD-25
Name dyskinesia, ciliary, primary, type 25 (CILD-25)
OMIM ID 615482
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 12
Phenotype entries for this disease 0
Associated with 1 gene DYX1C1
Associated tissues -
Disease features -
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Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00017600 - PubMed: Tarkar 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - 0 - - CILD-25 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 - - 0 - - CILD-25 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 - - 0 - - CILD-25 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 - - 0 - - CILD-25 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 - - 0 - - CILD-25 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 - - 0 - - CILD-25 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 - - 0 - - CILD-25 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 - - 0 - - CILD-25 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 - - 0 - - CILD-25 situs inversus totalis, infertile, recurrent otitis media, recurrent sinusitis, bronchiectasis DYX1C1 DYX1C1 2 1 Johan den Dunnen
00017609 - PubMed: Tarkar 2013 - M no Australia - - 0 - - CILD-25 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) - - 0 - - CILD-25 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) - - 0 - - CILD-25 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
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