All individuals with variants in gene WBP4

10 entries on 1 page. Showing entries 1 - 10.
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00443979 Fam1PatIII1 PubMed: Engal 2023, Journal: Engal 2023 3-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives M yes - Arab Muslim - - - - NDD see paper; ..., no prenatal anomalies; short philtrum, tented upper lip; protruding low-set ears; normal hair; retrognathia; motor delay; 16m-turning over; 19m-sit; 4y6m-walks, climbs, difficulty running; speech delay; not yet (syllables); not yet toilet trained; severe intellectual disability; autistic features; hyperactivity; no sleep disturbances; EEG normal; hypotonia; cerebral imaging normal; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect 1 2 Johan den Dunnen
00443980 Fam1PatIII4 PubMed: Engal 2023, Journal: Engal 2023 fetus F yes - Arab Muslim <0d - - - NDD see paper; ..., 22wg-pregnancy terminated, prenatal intrauterine growth retardation, atrioventricular canal defect, suspected absence of thymus; atrioventricular canal defect 1 1 Johan den Dunnen
00443981 Fam2PatII1 PubMed: Engal 2023, Journal: Engal 2023 2-generation family, 1 affected, unaffected heterozygous parents M - Estonia - 3y - - - NDD see paper; ..., 3y-deceased; prenatal intrauterine growth retardation, oligohydramnios, bilateral hydro-nephrosis; hypertelorism; downward palpebral fissures (slant); depressed nasal bridge; smooth philtrum, high arched palate; low-set ears, broad inferior crus of antihelix; normal hair; turricephaly; proptosis; sandal gap; motor delay; <15m-turning over; not sitting; did not achieve walking; speech delay; no speech; did not achieve toilet trained; no autistic features; stereotypy; sleep-wake cycle disturbance; no clinical seizures; EEG diffuse non-epileptiform abnormal activity, diffuse abnormally slow rhythms; hypotonia; cerebral imaging agenesis of corpus callosum, frontotemporally widened subarachnoid space; feeding difficulties (gastrostomy feeding, frequent vomiting); congenital sensorineural hearing impairment; strabismus; atrial septal defect; urogenital abnormalities (hydronephrosis, renal cyst, cryptorchidism, hypospadias, anal atresia with fistula); frequent infections (bronchitis, otitis) 1 1 Johan den Dunnen
00443982 Fam3PatII2 PubMed: Engal 2023, Journal: Engal 2023 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - NDD see paper; ..., no prenatal anomalies; no hypertelorism; normal palpebral fissures (slant); normal nasal bridge; normal mouth, normal oral cavity; normal ears; normal hair; no skeletal anomalies; motor delay; >2, walk, ataxic gait, frequent falling; speech delay; 3y-first words (<10 meaningful words); no autistic features; no behavioral anomalies; no clinical seizures; EEG normal; hypotonia; cerebral imaging normal; no feeding difficulties; bilateral conductive hearing loss to mid and high frequencies 1 1 Johan den Dunnen
00443983 Fam4PatIII2 PubMed: Engal 2023, Journal: Engal 2023 3-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Egypt - - - - - NDD see paper; ..., no prenatal anomalies; hypertelorism; upward palpebral fissures (slant); prominent nasal bridge; normal mouth, normal oral cavity; protruding small ears; thin hair; flat forehead, arched eyebrows, broad chin; motor delay; 9m-turning over; 16m-sit; 4y-walk; speech delay; 3y-first words (few double syllable words); not yet toilet trained; severe intellectual disability (IQ35); present (CARS: 38); stereotypy, hyperactivity; sleep-wake cycle disturbance; 3y-apneic spells with tonic seizures,controlled on oxcarbazepine; EEG left parietal epileptigenic discharges; hypotonia; cerebral imaging hypoplasia of corpus callosum, prominent cortical sulci; feeding difficulties; no hearing loss; infrequent strabismus; mitral regurgitation, small patent ductus arteriosu 1 1 Johan den Dunnen
00443984 Fam5PatII3 PubMed: Engal 2023, Journal: Engal 2023 2-generation family, 2 affected, unaffected heterozygous parents F - Egypt - - - - - NDD see paper; ..., part of twins, 55d-twin brother deceased (intestinal obstruction); hypertelorism; normal palpebral fissures (slant); depressed nasal bridge; short philtrum, high arched palate; protruding low-set ears; thin hair; motor delay; 8m-turning over; 14m-sit; 4y6m-walk; speech delay; 4y-first words (few words); 8y fairly toilet trained; moderate intellectual disability (IQ40); present (CARS: 35); stereotypy, hyperactivity; sleep-wake cycle disturbance; no clinical seizures; EEG normal; hypotonia in early infancy; cerebral imaging hypoplasia of corpus callosum; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect 1 2 Johan den Dunnen
00443985 Fam5PatII6 PubMed: Engal 2023, Journal: Engal 2023 sister F - Egypt - - - - - NDD see paper; ..., no prenatal anomalies; hypertelorism; mild upward palpebral fissures (slant); normal mouth, normal oral cavity; protruding ears; thin hair; motor delay; 8m-turning over; 15m-sit; 3y-walk, wide-based gait; speech delay; 3y-first words (few letters); not yet toilet trained; severe intellectual disability (IQ35); autistic features (CARS: 36); nervousness, hyper-activity, aggression; sleep-wake cycle disturbance; no clinical seizures; EEG normal; hypotonia; cerebral imaging hypoplasia of corpus callosum, mild prominent cortical sulci; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect 1 1 Johan den Dunnen
00443986 Fam6PatII1 PubMed: Engal 2023, Journal: Engal 2023 2-generation family, 1 affected, unaffected heterozygous parents M - India - - - - - NDD see paper; ..., prenatal mild ventriculomegaly, polyhydramnios; no hypertelorism; bilateral epicanthal folds; normal nasal bridge; short philtrum, tented upper lip, thick lips, high narrow palate, crowding of teeth; anteverted ears, large ears; normal hair; asymmetric skull, bitemporal narrowing; prominent metopic ridge, overhanging columnella; pectus deformity, pes planus; motor delay; 2y5m-not yet walking, can take steps with support; speech delay; no speech yet; bruxism; hyperactivity; no clinical seizures; EEG normal; hypotonia; feeding difficulties 1 1 Johan den Dunnen
00443987 Fam7PatII1 PubMed: Engal 2023, Journal: Engal 2023 2-generation family, 1 affected, unaffected heterozygous parents F yes Morocco - - - - - NDD see paper; ..., prenatal intrauterine growth retardation, colpocephaly, ventriculomegaly, agenesis corpus callosum, faciocraniosynostosis; hypertelorism; downward palpebral fissures (slant); depressed nasal bridge (neonatal period); normal mouth, normal oral cavity; low-set ears, auditory canal stenosis; craniosynostosis; exophthalmos, microretrognathia; motor delay; 2y11m-sit; not yet walking; speech delay; no speech yet; intellectual disability; 2y-clinical seizures; EEG normal; hypotonia; cerebral imaging agenesis of the corpus callosum, abnormal cerebral cortical gyration, Chiari malformation; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect; Hirschsprung disease 1 1 Johan den Dunnen
00443988 Fam8PatII1 PubMed: Engal 2023, Journal: Engal 2023 2-generation family, 1 affected, unaffected heterozygous parents F yes - - - - - - NDD see paper; ..., deceased in infancy; hypertelorism; bilateral epicanthal folds; depressed nasal bridge (neonatal period); cleft lip, cleft palate; low-set ears, left earlobe crease; bilateral club foot; no clinical seizures; EEG normal; hypotonia; cerebral imaging abnormal cerebral cortical gyration; multiple ventricular septal defects, cardiac coarctation; clitoris hypertrophy 1 1 Johan den Dunnen
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