All individuals with variants in gene FRYL

14 entries on 1 page. Showing entries 1 - 14.
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00449541 Pat1 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; no psychiatric problems; no hypotonia; staring spells daily lasting 1-2 min; brain MRI/CT intraventricular hemorrhage, small subdural collections; RV tumor, partial atrioventricular septal defect, atrial septal defect, peripheral pulmonary stenosis; no genitourinary anomalies; no gastrointestinal anomalies; upslanting palpebral fissures, bitemporal narrowing, tall forehead, epicanthal folds, flat nasal bridge, short upturned nose, long well-grooved philtrum, cleft chin; pulmonary hypertension 1 1 Johan den Dunnen
00449542 Pat2 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., premature placental abruption; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; dissociative motor disorder, borderline personality disorder, recurrent depressive disorders, eating disorder; hypotonia; no seizure; brain MRI/CT normal; patent ductus arteriosus, patent foramen ovale, pulmonary artery stenosis; urinary incontinence; no gastrointestinal anomalies; long face, down-slanted palpebral fissures, retrognathy, low-set ears (can be attributed to SF3B4 variant); hearing impairment; median cleft palate; dental crowding (can be attributed to SF3B4 variant) 1 1 Johan den Dunnen
00449543 Pat3 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; no autism; no psychiatric problems; no hypotonia; no seizure; brain MRI/CT normal; tetralogy of fallot with pulmonary atresia; hydrocele; no gastrointestinal anomalies; no dysmorphic features; 1 1 Johan den Dunnen
00449544 Pat4 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - 4m - - - NDD see paper; ..., 4m-deceased, no prenatal complications; no hypotonia; 28d-seizures noted after cardiac arrest and prolonged hypotensive episode2m-recurrent seizure, EEG right and left frontal and temporal sharps and rare spikes, poorly formed sleep architecture; brain MRI/CT normal; hypoplastic left heart syndrome, AS, MS, LA egress obstruction, interrupted aortic arch; no genitourinary anomalies; jejunal atresia, microcolon; slightly triangular face, mild hypertelorism, low-set small ears with upturned lobules; non-union of the sternum; unknown coagulopathy; chylous effusions 1 1 Johan den Dunnen
00449545 Pat5 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., pre-eclampsia, HELLP syndrome, 26w-premature delivery; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; poor socialization, avoidant/restrictive food intake disorder; no hypotonia; 2y-generalized epilepsy; brain MRI/CT normal; no cardiovascular anoalies; undescended testes, horseshoe kidney; no gastrointestinal anomalies; sacral dimples, mildly anteverted nares; 1 1 Johan den Dunnen
00449546 Pat6 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., short long bones; developmental delay and/or intellectual disability; delayed speech, delayed language; anxiety; hypotonia; no seizure; brain MRI/CT normal; ventricular septal defect, peripheral pulmonary stenosis; hypospadias; no gastrointestinal anomalies; epicanthal folds, low nasal bridge, small ear tags, ear pit, nail dysplasia; 1 1 Johan den Dunnen
00449547 Pat7 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; no psychiatric problems; hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; frontal bossing, deep-set eyes, down-slanting palpebral fissure, nail dystrophy; pectus carenatus; interstitial lung disease 1 1 Johan den Dunnen
00449548 Pat8 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; attention deficit hyperactivity disorder; no hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; deep-set eyes, up-slanting palpebral fissures, slightly posteriorly rotated ears; 1 1 Johan den Dunnen
00449549 Pat9 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., umbilical cord around neck at birth, forceps-assisted delivery, torticollis; developmental delay and/or intellectual disability; delayed speech, delayed language; behavioral disturbances; no hypotonia; focal seizures, epileptiform discharges in the right central region; brain MRI/CTmild thinning corpus callosum, mild diffuse cerebral volume loss; dextrocardia, common atrium, CAVC defect, IAA, patent ductus arteriosus; hypospadias, undescended testes, chordee; jejunal atresia, midline liver; down-slanting palpebral fissures, flattened nasal bridge; unknown coagulopathy; spleen on right; polysplenia syndrome 1 1 Johan den Dunnen
00449550 Pat10 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., increased nuchal translucency; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; tics; no hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; deep-set eyes, up-slanting palpebral fissures, large ears, short philtrum; 1 1 Johan den Dunnen
00449551 Pat11 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; behavioral disturbances, sleep disturbances; hypotonia; no seizure; brain MRI/CT cortical dysplasia, incomplete inversion hippocampus; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; frontal bossing, anterior hairline; 1 1 Johan den Dunnen
00449552 Pat12 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; non-verbal; autism; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; no dysmorphic features; 1 1 Johan den Dunnen
00449553 Pat13 PubMed: Pan 2024, Journal: Pan 2024 patient (mother not available) F - - - - - - - NDD see paper; ..., 33w-premature delivery; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; adjustment disorder with depressed mood; no hypotonia; no seizure; brain MRI/CT normal; dextrocardia, interrupted IVC, atrial septal defect, ventricular septal defect, patent ductus arteriosus; no genitourinary anomalies; midline liver, right-sided stomach; almond-shaped eyes, small hyperpigmented macule under right breast; dermatomyositis; stage 4B mixed cellularity Hodgkin lymphoma; functional asplenia 1 1 Johan den Dunnen
00449554 Pat14 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., C-section due to maternal hypertension and failure to progress, maternal diabetes; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; attention deficit hyperactivity disorder; hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; undescended testes; no gastrointestinal anomalies; no dysmorphic features; neonatal thrombocytopenia 1 1 Johan den Dunnen
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