Disease #04114

Official abbreviation CILD-29
Name dyskinesia, ciliary, primary, type 29 (CILD-29)
OMIM ID 615872
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene CCNO
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00049920 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 2 1 Heike Olbrich
00050069 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 2 2 Heike Olbrich
00050071 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 1 2 Heike Olbrich
00050104 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 1 1 Heike Olbrich
00050105 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 1 2 Heike Olbrich
00050106 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 2 1 Heike Olbrich
00050108 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 1 1 Heike Olbrich
00050109 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 1 2 Heike Olbrich
00050110 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 1 1 Heike Olbrich
00050111 - - - - - - - - 0 - - CILD-29 - CCNO CCNO 1 1 Heike Olbrich
00050146 - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 summary phenotype - - - - - 0 - - CILD-29 all suffer from respiratory symptoms due to recurrent upper/lower airway infections; bronchiectasis already present in early childhood, progressed with age; lung function values decrease over time; 2 individuals lung transplantation (terminal respiratory failure 34y); 11 individuals nasal nitric oxide values markedly reduced (<100 parts/billion); 12/16 individuals (75%) respiratory distress after birth; in 2 families siblings died in early childhood; 1 female infertility, assisted reproduction to become pregnant; all individuals displayed situs solitus, no left-right body asymmetry CCNO - 0 1 Johan den Dunnen
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