All individuals with variants in gene FOXL1

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
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
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
00250266 - - mother with umbilical hernia F - - - >3y - - - ? spontaneous atrial septal defect closing; diastasis recti (14m-6 cm); dilated and tortuous ureters bilaterally with left hydronephrosis; CNS, ventriculomegaly, Chiari malformation and syrinx, meningeal cysts at T2-T3, developmental delay, o/e hypertelorism and broad forehead similar to mother, low-set ears, cafe-au-lait patch R buttock and L lower scapula, healing capillary hemangioma L buttock 1 2 LOVD
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