All individuals with variants in gene DNAH6

8 entries on 1 page. Showing entries 1 - 8.
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00401208 family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - MCPH see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly 1 1 Johan den Dunnen
00403112 FamC PubMed: Gershoni 2017 3-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives M yes Israel Muslim;Arab - - - - SPGF see paper; ... 1 4 Johan den Dunnen
00462378 - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - CILD - 1 1 Johan den Dunnen
00468253 LAT1663 PubMed: Rai 2025 - F - United States non-Hispanic;black - - - - ? see paper; ..., tricuspid atresia, double outlet right ventricle, levo-malposed great arteries; atrial situs solitus; right ventricular situs; left arterial situs; complex tricuspid atresia 1 1 Johan den Dunnen
00468255 LAT1085 PubMed: Rai 2025 - F - United States Hispanic - - - - ? see paper; ..., heterotaxy, left atrial isomerism, L-ventricular looping, common atrioventricular septal defect, double outlet right ventricle, levo-malposed great arteries; atrial situs ambiguus; left ventricular situs; Arterial situs; heterotaxy (left atrial isomerism) 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
00468267 GMKF_6 PubMed: Rai 2025 - F - United States non-Hispanic;white - - - - ? see paper; ..., double outlet right ventricle, dextro-malposed great arteries, common atrium, left superior vena cava non communicating with RSVC, hypoplastic left ventricle; atrial situs solitus; right ventricular situs; right arterial situs; double outlet right ventricle, dextro-malposed great arteries 1 1 Johan den Dunnen
00468274 GMKF_13 PubMed: Rai 2025 - M - United States non-Hispanic;black - - - - ? see paper; ..., heterotaxy, single RV, double inlet left ventricle, hypoplastic MV; heterotaxy 1 1 Johan den Dunnen
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