All individuals with variants in gene DYX1C1

14 entries on 1 page. Showing entries 1 - 14.
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00017599 - PubMed: Casey 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother M yes Ireland Irish Traveller - - - - CILD see paper; normal situs, EM revealed that, typically, both inner and outer dynein arms are absent 1 1 Johan den Dunnen
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 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 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 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 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 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 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 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 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 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 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 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 2 1 Johan den Dunnen
00306994 - - - M - - - - - - - ? Muscular hypotonia (HP:0001252); Limb-girdle muscle weakness (HP:0003325); Ptosis (HP:0000508) 1 1 Andreas Laner
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