All individuals with variants in gene EIF3B

14 entries on 1 page. Showing entries 1 - 14.
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00467744 Pat1 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, carrier mother with hip dysplasia F - - - - - - - NDD see paper; ..., tetralogy of Fallot; no craniofacial dysmorphisms; no behavioral/neurodevelopmental features; no seizures; mother hip dysplasia 1 1 Johan den Dunnen
00467745 Pat2 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected fetus, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., 22wg-termination pregnancy; tetralogy of Fallot; large head, square face, microretrognathia; no seizures 1 1 Johan den Dunnen
00467746 Pat3 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected (adopted) F - - - - - - - NDD see paper; ..., tetralogy of Fallot; attention-deficit hyperactivity disorder, aggression, developmental delay, memory retention concerns; no seizures 1 1 Johan den Dunnen
00467747 Pat4 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., interatrial communication (spontaneously closed); bilateral cleft lip and palate; delay in verbal language without intellectual disability, autism spectrum disorder; seizures 1 1 Johan den Dunnen
00467748 Pat5 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no cardiac anomalies; downslanting palpebral fissures, short neck, Noonan-like facies; attention-deficit hyperactivity disorder, learning difficulties; no seizures 1 1 Johan den Dunnen
00467749 Pat6 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., pulmonary stenosis, atrial septal defect, ventricular septal defect, aortic dilation; hypertelorism with telecanthus, arched eyebrows, eyelid ptosis, downslanting palpebral fissures, broad nasal root, posteriorly rotated ears, broad face, flattened and thin philtrum, Cupid’s bow mouth; early developmental delay, attention-deficit hyperactivity disorder, autism spectrum disorder, dyslexia; no seizures 1 1 Johan den Dunnen
00467750 Pat7 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no cardiac anomalies; hearing loss; cleft lip and palate; no behavioral/neurodevelopmental features; speech delay due to hearing loss; no seizures 1 1 Johan den Dunnen
00467751 Pat8 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., ventricular septal defect, subaortic membrane stenosis, aortic insufficiency, anomalous muscle bundle of the right ventricle; ptosis; no behavioral/neurodevelopmental features; no seizures 1 1 Johan den Dunnen
00467752 Pat9 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents (familial short stature) M - - - - - - - NDD see paper; ..., bicuspid aortic valve; severe congenital ptosis OS>OD, dysplastic ears, mild malar hypoplasia, microcephaly; developmental delay without cognitive impairment; no seizures; familial short stature 1 1 Johan den Dunnen
00467753 Pat10 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., tetralogy of Fallot; bilateral cleft lip and palate, no teeth, large crus; no seizures 1 1 Johan den Dunnen
00467754 Pat11 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., ventricular septal defect and atrial septal defect; microcephaly, dysmorphic features: broad forehead, temporal balding, arched eyebrows, broad nasal bridge, small nose, midface hypoplasia, flat philtrum, short neck; possible attention-deficit hyperactivity disorder, mild language delay; no seizures 1 1 Johan den Dunnen
00467755 Pat12 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffectednon-carrier mother F - - - - - - - NDD see paper; ..., no cardiac anomalies; no craniofacial dysmorphisms; mild learning disability; no seizures; familial cleft palate 1 1 Johan den Dunnen
00467756 Pat13 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., patent ductus arteriosus, three small muscular ventricular septal defect, perimembranous ventricular septal defect, small atrial septal defect, persistent left vena cava superior draining in the coronary sinus; progressive microcephaly, high forehead with slightly prominent metopic suture, bilateral epicanthus, hypertelorism, prominent nasal tip, small mouth, retrognathia; no behavioral/neurodevelopmental features; no seizures 1 1 Johan den Dunnen
00467757 Pat14 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., pulmonary atresia with patent septum type 2; cleft lip and palate; intellectual disability, walked at 18 months, no language, hyperactivity, aggression, autism spectrum disorder; no seizures 1 1 Johan den Dunnen
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