All individuals with variants in gene DOT1L

15 entries on 1 page. Showing entries 1 - 15.
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00303298 Pat3 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 162.6 cm (SD −1.6), weight 67.5kg (SD 0.40); mild developmental delay/intellectual disability; 14m-walk; 2.5y-first words, 3y-speech therapy; no regression; no seizures; ultrasound brain normal; no muscular hypotonia; autistic features in infancy; ventricle septum defect, bicuspid aortic valve, hypoplastic aortic arch, dilated cardiomyopathy; unilateral agenesis; cryptorchidism; tracheesophageal fistula, imperforate anus; sacrum segmentation anomaly, brachydactyly; tethered cord, hypothyroidism 1 1 Johan den Dunnen
00311909 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311910 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311911 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00440581 Pat1 PubMed: Nil 2023 - M - Canada China-Han;Europe - - - - NDD birth 41w+5, weight 3595g; MRI brain cortical dysplasia, periventricular heterotopia; atrial septal defect, persistent left supervior vena cava; hypotonia; hip subluxation; hypospadias with chordee; sensorineural and conductive; stenosis external auditory canal; severe global developmental delay; no speech; length short (2.94%); no microcephaly (97%); 9m-sit and rolled over, 3y-crawl, last assessment able to stand only with support; no seizures; unilateral choanal stenosis; aspiration pneumonias; oral motor dysfunction, GERD, no G-tube; no hematologic problems; neonatal hypoglycemia (requiring glucagon infusion); short 5th digits on hands, overlapping 2nd and 3rd toes, hypoplastic 5th toenails; hypertelorism, wide anterior fontanel, wide nasal bridge, s-shaped palpebral fissures, midface retraction; yes:anisometropic high myopia and amblyopia, tortuous retinal vessels in the left eye, blepharophimosis; café au lait spot on L arm 1 1 Johan den Dunnen
00440582 Pat2 PubMed: Nil 2023 - F - United States - 4y4m - - - NDD 4y4m-deceased due to worsening respiratory events and quality of life, compassionate withdrawal from life-sustaining therapies and ventilator support; birth 39w, weight 3620g, length 50.8cm, OFC 34.3cm; MRI brain normal; myocarditis with cardiomyopathy, resolved by 1y; hypotonia; hyperflexible hip joints; no urogenital anomalies; 9m-lack of reaction to loud stimuli or startle responses; global developmental delay; no speech; length short (4.95%); no microcephaly (60%); 3y-sit, but lost this ability, last assessment not able to sit independently or crawl, able to roll; no seizures; central and obstructive apneas, aspiration pneumonia, trach dependent; G-tube dependent; no hematologic problems; partial growth hormone deficiency, receives growth hormone treatment; no abnormalities hand/feet; full cheeks, myopathic face, tented upper lip, small epicanthal folds, depressed nasal bridge, high arched palate, ptosis of left eyelid; yes: strabismus, conjugate gaze palsy, ptosis of left eye lid; 1 1 Johan den Dunnen
00440583 Pat3 PubMed: Nil 2023 - M - United States Europe 4m - - - NDD deceased, cardiorespiratory arrest during sleep, possibly in setting of intercurrent illness, on background of severe neurological impairmen; tbirth 41w, weight 3780g, OFC 37.5cm; MRI brain hypoxic ischemic encephalopathy; large ventricular septal defect, moderate size atrial septal defect/patent ductus arteriosus; hypotonia; tall vertebral bodies, anomalous ribs (first 3), non ossified patella; hypospadias; no hearing loss; severe global developmental delay; microcephaly (<3.0%); no head control prior to death; seizures, EEG w/ persistent epileptiform discharges, possibility of infantile spasms; on home oxygen; tube fed; transient neonatal thrombocytopenia; hypothyroidism, may be transient; no abnormalities hand/feet; retrognathia, unusual philtrum with very narrow deep midline groove, tented mouth with downturned corners, pointed chin, maxillary areas appear small; no ophthalmological anomalies; 1 1 Johan den Dunnen
00440584 Pat4 PubMed: Nil 2023 - M - China Han - - - - NDD birth 39w; MRI brain bilateral brain atrophy, bilateral frontotemporal extra brain space widening, multiple small cysts in the corpus callosum; atrial septal defect; no hypotonia; cryptorchidism; mild hearing loss in both ears; severe global developmental delay; only a few words; 8m-head control, 18m-rolled ove, 27m-crawl, 3y-walk unsteadily; no seizures; dysplasia teeth, laryngomalacia; aspiration pneumonias; feeding difficulties, choking on milk easily; no hematologic problems; congenital hypothyroidism; no abnormalities hand/feet; wide eye distance, wide nose bridge and wings, mouth salivation, thick lips, micrognathia; no ophthalmological anomalies; 1 1 Johan den Dunnen
00440585 Pat5 PubMed: Nil 2023 - F - New Zealand Europe-W;Europe-E - - - - NDD birth 37w+6, weight 2551g, length 49.5cm,; MRI brain optic nerve hypoplasia/tract truncated corpus callosum; no cardiac anomalies; hypotonia; hip laxity; grade 1 vesicoureteral reflux; no hearing loss; severe global developmental delay; no speech; length normal (93.3%); microcephaly (4.0%); 19m-crawl, 3y- walk; no seizures; no respiratory problems; chronic constipation; no hematologic problems; no abnormalities hand/feet; brachycephaly, forehead was broad but not overly tall, palpebral fissures with lateral tapering and residual epicanthal folds, flattened nasal tip; optic nerve hypoplasia, reduced visual acuity; autism 1 1 Johan den Dunnen
00440586 Pat6 PubMed: Nil 2023 - M - France Europe;Romania - - - - NDD birth weight 2810g, length 49cm, OFC 35cm; MRI brain enlarged Virchow Robin spaces, tentorial herniation; no cardiac anomalies; hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; severe global developmental delay; only a few words; length short (0.64%); microcephaly (3.0%); 12m-sit, 2y-walked; no seizures; no respiratory problems; no feeding problems; transient neonatal thrombopenia; no abnormalities hand/feet; hypertelorism, epicanthal folds, up-slanting palpebral fissures, synophrys, bulbous nose; no ophthalmological anomalies; eczema 1 1 Johan den Dunnen
00440587 Pat7 PubMed: Nil 2023 - M - Norway - - - - - NDD birth 31w+2, weight 942g, length 34cm, OFC 25.7cm; MRI brain normal; ventricular septal defect; no hypotonia; pain after physical exercise, low endurance; small penis; sensorineural w/ bilateral semi-circular canal dysplasia; global developmental delay; only a few words; length short (0.40%); microcephaly (<1.0%); 18m-walk unsteadily, wears a helmet because of frequent falls; no seizures; unilateral narrow apertura piriformis; no respiratory problems; partially G-tube dependent; no hematologic problems; no abnormalities hand/feet; underdeveloped upper helix of external ear bilaterally, short palpebral fissures, smooth philtrum, prominent forehead; no ophthalmological anomalies; hemi-vertebra th8, spilt th3, 13 ribs left 1 1 Johan den Dunnen
00440588 Pat8 PubMed: Nil 2023 - M - China Han - - - - NDD birth 40w; MRI brain bilateral brain atrophy, focal cortical dysplasia; no cardiac anomalies; no hypotonia; no urogenital anomalies; no hearing loss; mild global developmental delay; only a few words; microcephaly (n/d); 4m-head control, 6m-crawle, 18m-walk unsteadily; no seizures; pneumonias; feeding difficulties, poor sucking, diarrhea; no hematologic problems; subclinical hypothyroidism; no abnormalities hand/feet; small eye fissure and wide eye distance,wide nasal bridge and nostrils up; no ophthalmological anomalies; 1 1 Johan den Dunnen
00440589 Pat9 PubMed: Nil 2023 - M - France Maghreb - - - - NDD birth weight 2980g, length 49cm, OFC 36cm; MRI brain cerebellar atrophy, megalencephaly; no cardiac anomalies; no hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; global developmental delay; only a few words; length normal (39.7%); no microcephaly (>99%); 2y-walk; 11y-seizures, clonic, generalized and absence; no respiratory problems; no feeding problems; no hematologic problems; no abnormalities hand/feet; high forehead, prognathism, large tip of nose; no ophthalmological anomalies; 1 1 Johan den Dunnen
00440590 Pat10 PubMed: Nil 2023 - F - United Kingdom (Great Britain) - - - - - NDD no cardiac anomalies; no hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; no ophthalmological anomalies; global developmental delay; intellectual disability; no speech; height percentile 27.8; no microcephaly 1 1 Johan den Dunnen
00440591 Pat11 PubMed: Nil 2023 - F - United States - - - - - NDD no cardiac anomalies; no hypotonia; torticollis, flexible hips, leg length discrepancy, right sided weakness with facial asymmetry; no urogenital anomalies; hearing loss; amblyopia, anisometropia; speech delay, articulation concern; height percentile 3.3; no microcephaly 1 1 Johan den Dunnen
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