All individuals with variants in gene FOXF1

56 entries on 1 page. Showing entries 1 - 56.
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00183317 ASHG2018-P428 Szafransky ASHG2018 P428 - F - Canada French-Canadian - - - - ? pulmonary hypertension, no alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) 2 1 Johan den Dunnen
00250212 Pat3 PubMed: Casanova 2017, Journal: Casanova 2017 - - - - - - - - - ? Alveolar capillary dysplasia with annular pancreas, duodenal stenosis and intestinal malrotation. Birth weight of 2900g at 38 weeks gestation. 1 1 David Monk
00250213 Pat1/Pat2 PubMed: Casanova 2017, Journal: Casanova 2017 two affected twins with similar phenotype and variant - - - - - - - - ? - 1 1 David Monk
00250214 - - - - ? - Asian - - - - ACDMPV posterior urethral valves 1 1 Avinash Dharmadhikari
00250215 - - - - ? - white - - - - ACDMPV complex; butterfly vertebra 1 1 Avinash Dharmadhikari
00250216 - - - F - - - 1d - - - ACDMPV died from pulmonary insufficiency; gestation 28w; birth weight 1091g; respiratory ACD/MPV, pulmonary lymphangiectasia; patent ductus arteriosus; esophageal atresia, tracheo-esophageal fistula, abnormal placement anus; Single umbilical artery 1 1 LOVD
00250217 - - - M - - - ? - - - ? elective termination pregnancy 22w; hypoplastic left heart syndrome; dilated renal pelvices 1 1 LOVD
00250218 - - - M - - - 40d - - - ACDMPV died from pulmonary insufficiency; elective C-section 38w; birth weight 2900g; respiratory ACD/MPV, persistent pulmonary hypertension, extracorporeal membrane oxygenation dependent (veno-veno); Tetralogy of Fallot, patent ductus arteriosus; duodenal atresia with annular pancreas, imperforate anus; bilateral hydronephrosis, mod right, severe left; Single umbilical artery 1 1 LOVD
00250219 - - - F - - - 15d - - - ACDMPV died from pulmonary insufficiency; elective C-section 37w; respiratory ACD/MPV, left pneumothorax, hypoxemia, surfactant therapy, extracorporeal membrane oxygenation; hypoplastic left heart syndrome; mild uretero-pelvic caliectasis; T11 butterfly vertebra; cleft lip, cleft palate, brachycephaly, single umbilical artery 1 1 LOVD
00250220 - - - M - - - 18d - - - ? died from pulmonary insufficiency; extracorporeal membrane oxygenation dependent; interrupted aortic arch, dilated pulmonary artery, large patent ductus arteriosus, decreased size left ventricle, pulmonary hypertension; bilateral renal pelviectasis; posterior rib fusions 10/11 (right side), 9/10 and 11/12 (left side); severe respiratory distress 1 1 LOVD
00250221 - - - M - - - 5d - - - ? died from pulmonary insufficiency; gestation 35w; birth weight 1700g; respiratory distress requiring inhaled nitrous oxide, hydrocortisone, prostaglandin and FiO2 100%, attributed to RDS; atrioventricular septal defect, ostium primum atrial septal defect, small ventricular septal defect, patent ductus arteriosus, mildly hypoplastic left ventricle, bicuspid aortic valve; possible duodenal atresia, possible intestinal malrotation; moderate bilateral pelvicaliectasis, mild to moderate proximal urethral dilatation, probable mild to moderate distal ureteral dilatation; absent spleen, transverse orientation liver, compatible with abdominal heterotaxy; severe respiratory distress 1 1 LOVD
00250222 - - - F - - - 25d - - - ? birth weight 3676g; respiratory ACD/MPV, persistent pulmonary hypertension, lung biopsy done; patent ductus arteriosus, ligated; ECG structurally normal heart; adhesions bowel loops, 2nd part duodenum, gallbladder, no malrotation at laparotomy 1 1 LOVD
00250223 - - - M ? - - 10d - - - ACDMPV gestation 32w; birth weight 2470g; bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas and duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder 1 1 Avinash Dharmadhikari
00250224 - - - M ? - - 00y00m00d12h - - - ACDMPV gestation 32w; birth weight 2460g; obstructive renal dysplasia 1 1 Avinash Dharmadhikari
00250225 - - - F ? - - 1d - - - ACDMPV gestation 35w; birth weight 2490g; partial anomalous pulmonary venous connection with absent left upper lobe pulmonary vein, malrotation of bowel, congenital short bowel, small omphalocele, bilateral severe hydronephrosis, hydroureter, bladder dilatation, micrognathia, low set ears 1 1 Avinash Dharmadhikari
00250226 - - - M ? - - 47d - - - ACDMPV gestation 38w; birth weight 5057g; intestinal malrotation, Meckel's diverticulum 2 1 Avinash Dharmadhikari
00250227 - - - F ? - Hispanic - - - - ACDMPV Malrotation of intestine, imperforate anus, butterfly vertebra 1 1 Avinash Dharmadhikari
00250228 - - - M ? - white - - - - ACDMPV Incomplete rotation of bowel, high arched palate, hypocalvaria, incomplete lung lobation 1 1 Avinash Dharmadhikari
00250229 - - - M ? - white - - - - ACDMPV Malrotation of the intestine, hydronephrosis, bilateral hydroureter, enlarged and thick bladder 1 1 Avinash Dharmadhikari
00250230 - - - F ? - white - - - - ACDMPV None 1 1 Avinash Dharmadhikari
00250231 - - - M ? - white - - - - ACDMPV Abnormal lung lobation, malrotation of the intestine, duodenal atresia 1 1 Avinash Dharmadhikari
00250232 - - - M ? - white - - - - ACDMPV Hyaline membrane disease, patent ductus arteriosus, multiple intestinal atresias, imperforate anus, undescended testis, Hirschprung disease 1 1 Avinash Dharmadhikari
00250233 - - - M ? - Hispanic - - - - ACDMPV none identified 1 1 Avinash Dharmadhikari
00250234 - - - - ? - white - - - - ACDMPV duodenal and anal atresia, malrotation of the large intestine and gallbladder agenesis 1 1 Avinash Dharmadhikari
00250235 - - - ? ? - white - - - - ACDMPV Atrial septal defect, polyhydramnios 1 1 Avinash Dharmadhikari
00250236 - - - F ? - white - - - - ACDMPV Intestinal malrotation 1 1 Avinash Dharmadhikari
00250237 - - - F ? - white - - - - ACDMPV Bilobed right lung 1 1 Avinash Dharmadhikari
00250238 - - - ? no - white - - - - ACDMPV unknown 1 1 Avinash Dharmadhikari
00250239 - - - ? ? - unknown - - - - ACDMPV unknown 1 1 Avinash Dharmadhikari
00250240 - - - M ? - white - - - - ACDMPV Hydronephrosis, partial stenosis at transition to colon transversum 1 1 Avinash Dharmadhikari
00250241 - - - M ? - white - - - - ACDMPV Malrotation of the intestine, atrial septal defect, thickened distended bladder with muscular hypertrophy 1 1 Avinash Dharmadhikari
00250242 - - - F ? - white - - - - ACDMPV Meckel’s divurticulum, moderate acute cortical involution of thymus 1 1 Avinash Dharmadhikari
00250243 - - - M ? - Asian/white - - - - ACDMPV Bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas, duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder 1 1 Avinash Dharmadhikari
00250244 - - - F ? - white - - - - ACDMPV none identified 1 1 Avinash Dharmadhikari
00250245 - - - ? no - white - - - - ACDMPV unknown 1 1 Avinash Dharmadhikari
00250246 - - - F ? - African American - - - - ACDMPV none identified 1 1 Avinash Dharmadhikari
00250247 - - - M ? - white - - - - ACDMPV Megaduodenum, pyloric stenosis, annular pancreas 1 1 Avinash Dharmadhikari
00250248 - - - - ? - African American - - - - ACDMPV Atrial septal defects 1 1 Avinash Dharmadhikari
00250249 - - - M no - white - - - - ACDMPV Uretral stenosis, megavesica, severe hydronephrosis 1 1 Avinash Dharmadhikari
00250250 - - - F no - white - - - - ACDMPV Isolated arhinencephaly 1 1 Avinash Dharmadhikari
00250251 - - - M no - white - - - - ACDMPV Severe obstructive uropathy 1 1 Avinash Dharmadhikari
00250252 - - - F ? - white - - - - ACDMPV Duodenal stenosis, annular pancreas, malrotation of large intestine 1 1 Avinash Dharmadhikari
00250253 - - - F ? - white - - - - ACDMPV unknown 1 1 Avinash Dharmadhikari
00250254 - - - F ? - white - - - - ACDMPV Duodenal atresia, polysplenia, annular pancreas and left hydronephrosis 1 1 Avinash Dharmadhikari
00250255 - - - ? ? - unknown - - - - ACDMPV unknown 1 1 Avinash Dharmadhikari
00250256 - - - M ? - Asian - - - - ACDMPV None 1 1 Avinash Dharmadhikari
00250257 - - - ? ? - unknown - - - - ACDMPV unknown 1 1 Avinash Dharmadhikari
00250258 - - - M ? - white - - - - ACDMPV Mild aortic coarctation, Meckel's diverticulum 1 1 Avinash Dharmadhikari
00250259 - - - M ? - white - - - - ACDMPV none identified 1 1 Avinash Dharmadhikari
00250260 - - - F ? - Hispanic - - - - ACDMPV Bilateral incomplete lobation of lungs, Lymphangiectasis 1 1 Avinash Dharmadhikari
00250261 - - - F ? - white - - - - ACDMPV No lung lobation 1 1 Avinash Dharmadhikari
00250262 - - - - ? - - - - - - Healthy/Control - 1 1 LOVD
00250263 - - - M ? - Hispanic - - - - ACDMPV none identified 1 1 Avinash Dharmadhikari
00250264 - - - ? ? - unknown - - - - ACDMPV unknown 1 1 Avinash Dharmadhikari
00250265 - - - F ? - white - - - - ACDMPV Atrial septal defect 1 1 Avinash Dharmadhikari
00291566 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
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