All individuals with variants in gene DNAH9

22 entries on 1 page. Showing entries 1 - 22.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00210722 30471718-OP-2905PatII1 PubMed: Loges 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - - - - CILD situs inversus totalis, mild respiratory, septo-optic dysplasia 2 1 Johan den Dunnen
00210723 30471718-OP-1226PatII1 PubMed: Loges 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - CILD no respiratory phenotype, situs inversus totalis 1 1 Johan den Dunnen
00210724 30471718-MS-SI46PatII1 PubMed: Loges 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - CILD mild respiratory phenotype, situs inversus totalis 1 1 Johan den Dunnen
00210725 30471718-AMPatII1 PubMed: Loges 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Serbia - 00y00m08d - - - CILD situs ambiguous with complex heart defect (left atrial isomerism, atrioventricular canal defect, interrupted vena cava inferior, anomalous pulmonary vein connection, persistent ductus arteriosus); 8d-died from cardiac defect 2 1 Johan den Dunnen
00210726 30471718-MDPatII1 PubMed: Loges 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - CILD mild respiratory phenotype, heterotaxy with situs inversus, interrupted inferior vena cava with azygous continuation, right aortic arch with mirror image head and neck vessel branching, liver and gall bladder on left, multiple splenules on right side, hydrocephalus, ventriculoperitoneal shunt after group B streptococcal sepsis as infant 2 1 Johan den Dunnen
00211179 30471717-Fam1PatII1 PubMed: Fassad 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) Pakistan - - - - CILD no neonatal distress, rhinosinusitis, wet cough, no otitis media, no bronchiectasis, situs inversus, infertility unknown, protein losing enteropathy, complex congenital heart disease (unbalanced atrioventricular septal defect, congenitally corrected transposition great arteries, inferior vena cava conduit stenosis required stenting 1 1 Johan den Dunnen
00211180 30471717-Fam2PatII2 PubMed: Fassad 2018 2-generation family, affected brother/suster, unaffected heterozygous carrier parents/relatives M no United Kingdom (Great Britain) Somalia - - - - CILD no neonatal distress, rhinosinusitis, wet cough with infection, no otitis media, no bronchiectasis, situs inversus, infertility unknown 2 2 Johan den Dunnen
00211181 30471717-Fam2PatII3 PubMed: Fassad 2018 sister F no United Kingdom (Great Britain) Somalia - - - - CILD no neonatal distress, rhinosinusitis, wet cough with infection, no otitis media, no bronchiectasis, situs inversus, infertility unknown, 2 1 Johan den Dunnen
00211182 30471717-Fam3PatII1 PubMed: Fassad 2018 2-generation family, 1 affected, unaffected parents M - Algeria - - - - - CILD no neonatal distress, rhinosinusitis, wet cough, no otitis media, no bronchiectasis, situs inversus, infertility 2 1 Johan den Dunnen
00275584 - - - F - - - - - - - ? Intellectual disability (HP:0001249); Spasticity (HP:0001257); Dysarthria (HP:0001260); Spastic tetraparesis (HP:0001285); Dystonia (HP:0001332); Situs inversus totalis (HP:0001696); Orofacial dyskinesia (HP:0002310); Postnatal microcephaly (HP:0005484); Laryngotracheomalacia (HP:0008755); Muscular hypotonia of the trunk (HP:0008936); Oromandibular dystonia (HP:0012048); Abnormal heart morphology (HP:0001627) 1 1 IMGAG
00289306 - - - M - - - - - - - ? Intellectual disability, mild (HP:0001256); Ventricular septal defect (HP:0001629); Patent ductus arteriosus (HP:0001643); Situs inversus totalis (HP:0001696); Short stature (HP:0004322); Pulmonary artery stenosis (HP:0004415) 2 1 IMGAG
00291625 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 151 Mohammed Faruq
00304559 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00468254 LAT1357 PubMed: Rai 2025 - M - United States Hispanic - - - - ? - 1 1 Johan den Dunnen
00468258 LAT0279 PubMed: Rai 2025 - F - United States Hispanic - - - - ? see paper; ..., L-ventricular looping, DILV, left transposition great arteries, pulmonary stenosis, Subpulmonary stenosis; atrial situs solitus; left ventricular situs; left arterial situs; double inlet left ventricle 1 1 Johan den Dunnen
00468262 GMKF_1 PubMed: Rai 2025 - M - United States non-Hispanic;white - - - - ? see paper; ..., dextro-transposition great arteries, dysplastic pulmonary valve cusp; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries 1 1 Johan den Dunnen
00468263 GMKF_2 PubMed: Rai 2025 - M - United States Hispanic;white - - - - ? see paper; ..., dextro-transposition great arteries, pulmonary stenosis; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries 1 1 Johan den Dunnen
00468265 GMKF_4 PubMed: Rai 2025 - F - United States non-Hispanic;Asia - - - - ? see paper; ..., dextro-transposition great arteries, right aortic arch with mirror-image branching; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries 1 1 Johan den Dunnen
00468266 GMKF_5 PubMed: Rai 2025 - F - United States Hispanic;white - - - - ? see paper; ..., dextro-transposition great arteries, pulmonary stenosis, ventricular septal defect, left ventricular outflow tract obstruction; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries 1 1 Johan den Dunnen
00468269 GMKF_8 PubMed: Rai 2025 - F - United States Hispanic;black - - - - ? see paper; ..., double outlet right ventricle, pulmonary artery atresia, mitral atresia, hypoplastic left ventricle, right aortic arch with mirror-image branching; atrial situs solitus; right ventricular situs; right arterial situs; double outlet right ventricle (likely malposed great arteries) 1 1 Johan den Dunnen
00468276 GMKF_15 PubMed: Rai 2025 - M - United States Hispanic;white - - - - ? see paper; ..., bicuspid aortic valve, aortic stenosis; atrial situs solitus; right ventricular situs; arterial situs solitus; left-sided lesion 1 1 Johan den Dunnen
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