All individuals with variants in gene HIST1H4E

17 entries on 1 page. Showing entries 1 - 17.
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00404428 Pat8 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - United States white;Hispanic - - - - NDD birth 35w+6 length 45.5 cm (-0.77 SD)birth 35w+6 length 45.5 cm (-0.77 SD), weight 2.0128 kg (-1.47 SD), OFC 32 cm (-0.1 SD); height 64.2 cm (-3.14 SD), weight 5.595 kg (-4.55 SD), OFC 42.7 cm (-2.63 SD); made sounds but did not babble during exam. Not pulling to stand yet. Not seen in neurology; global developmental delay, growth delay, post natal microcephaly, short stature; Broad nasal bridge, blunt nasal tip; feeding NG tube in place; hemangioma on left lower calf; Normal Renal ultrasound at almost 11 moths and a half; Decreased subcutaneous fat, XR bone survey at 11 month and a half: mild microcephaly, asymetric ossification of the femoral heads with left side discrepantly small. Overall nonespecfic findings. Nodefinitive evidence of skeletal dysplasia; Passed newborn hearing screen. Normal hearing at 11 months; Failure to thrive, growth concerns even in prenatal period; 1 1 Johan den Dunnen
00404429 Pat9 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Portugal;Belize;Mexico native American - - - - NDD birth length 48.5 cm (-1.27 SD)birth length 48.5 cm (-1.27 SD), weight 2.82 kg (-1.55 SD), OFC 33.5 cm (-1.34 SD); height 97 cm (-2.56 SD), weight 16.5 kg (-0.87 SD), OFC 50.8 cm (-1.24 SD); epilepsy (controlled on Keppra), lower limb spasticity and diffuse hyperreflexia consistent with a diplegic cerebral palsy presentation; MRI persistent mildly delayed myelination for age.; Global developmental delays, first sat up at 24 months, started cruising at 5 y and cannot walk independently at 5 y, has been babbling since 15 months but does not have any words; epicanthal folds, otherwise normal; no feeding problems; has a café au lait macule and a slate gray nevus; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; 1 1 Johan den Dunnen
00404430 Pat10 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Netherlands - - - - - NDD birth 38w length 44 cm (-2.5 SD)birth 38w length 44 cm (-2.5 SD), weight 2.86 kg (-0.33 SD); height 151 cm (-0.2 SD), weight 39 kg (-0.49 SD), OFC 52 cm (-1.89 SD); No focal abnormalities; MRI normal; Delay noted at 1.5y of age, speech delay. Motor development (planning and coordination) delayed. Autism is most limiting. IQ test not reliable; showed dysharmonic profile (verbal lower than performal; active vocabulary lower than passive); Short palpebral fissures, epicanthus, high hair line, preauricular tag; Only motor delay; difficutlies with coordination of mouth movements; now on no lactose-gluten-glucose-carb diet -> improved contact and vocabulary; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; Hypermobility; abnormal processing of stimuli; good effect of Sonrise therapy 1 1 Johan den Dunnen
00404431 Pat11 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - India;New Zealand - - - - - NDD birth 37w birth 37w , weight 2.38 kg (-1.04 SD); height 115.6 cm (-1.31 SD), weight 20.3 kg (-1.01 SD), OFC 48.8 cm (-3.21 SD); prior ataxia/dystonia now resolved; global developmental dealy; no facial dysmorphism; no feeding problems; normal skin; no urogenital anomalies; clinically normal;no xrays performed; no hearing loss; normal vision; Previous older sibling stillborn but well grown 1 1 Johan den Dunnen
00404432 Pat12 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United Kingdom (Great Britain) - - - - - NDD birth weight 3.2 kg (-0.74 SD)birth weight 3.2 kg (-0.74 SD); height 131 cm (-2.27 SD), weight 27 kg (-2.11 SD), OFC 49 cm (-3.71 SD); axial hypotonia, limb hypertonia, brisk reflexes, progressively developing ataxia; MRI normal; sat 11 months, crawled 18 months, walked 4 years, speech from 4 years; prominent nose, broad nasal tip, broad columella, everted lips, prominent teeth; no feeding problems; blistering in sun; enlarged external genitalia; no skeletal anomalies; no hearing loss; normal vision; frequent infections; chromosome Xq21.32 dup (mat) , precocious puberty, macroorchidism 1 1 Johan den Dunnen
00404433 Pat13 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Netherlands - - - - - NDD birth 30w, dizygotic twin, neonatal asphyxiabirth 30w, dizygotic twin, neonatal asphyxia, weight 1.325 kg (0.56 SD); 18y height 141.5 cm (-3.65 SD), weight 45.5 kg (-1.77 SD), OFC 50 cm (-3.98 SD); Spastic quadriplegia, absence-like episodes (no formal diagnosis of epilepsy); Developmetal delay, severe intellectual disability, very limited speech; Brachycephaly, deep set eyes, periorbital fullness, small up turned nose with broad tip, low set ears, prominent philtrum, down turned corners of the mouth, high narrow palate, curly hair; Several periods of tube feeding during infancy and childhood; Dry skin; no urogenital anomalies; Lumbal lordosis, small hands and feet; no hearing loss; Moderate myopia, central vision impairment; Recurrent respiratory infections during childhood, once episode of anemia (with single transusion) during infancy; automutilating behavior, screaming, teeth grinding 1 1 Johan den Dunnen
00404434 Pat14 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Netherlands white;Hispanic - - - - NDD birth 40w birth 40w , weight 2.5 kg (-2.03 SD); height 154 cm (-3.29 SD), weight 43 kg (-3.66 SD), OFC 52 cm (-3.07 SD); Focal epilepsy, since age 22 years; psychomotor delay, increasing cognitive delay, regression of speech, eventually severe intellectual disability; He looks much older than his calendar age/premature ageing of facial features, with excessive wrinkling for age; has to be stimulated to eat sometimes; premature ageing/wrinkling; difference in length of legs (7 mm); normal-mild hearing loss; vision 0.15, myopia (-3) cylinder (-2), alternating strabismus convergence; frequent infections (including bilateral pneumonia as a child, frequent ear infections); obstructive sleep apnea (diagnosed at age 50 yrs), premature aging - excessive wrinkling, baldness, similar to 80yr old parents 1 1 Johan den Dunnen
00404435 Pat15 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Italy - - - - - NDD birth 41w length 45 cm (-3.2 SD)birth 41w length 45 cm (-3.2 SD), weight 2.45 kg (-2.58 SD), OFC 32 cm (-2.53 SD); height 127 cm (-5.95 SD), weight 26.5 kg (-6.14 SD), OFC 49 cm (-4.6 SD); Language intelligible (she knows 20 words); slightly ataxic, she is not able to step on stairs; frequent smiling, motor stereotypic movement (hand-washing, clapping). Normal muscle tone.; 5 MRIs done at the age of 2, 3, 7, 8 and 13 years: slight hyperintensity in T2-weighted sequences of supratentorial white matter.; Behavioural abnormality, Stereotypy, Severe intellectual disability; Low frontal hairline, bushy and laterally sparsed eyebrows, upslanting long palpebral fissures, triangular nose with prominent glabella and slight bulbous nasal tip, short simplified philtrum, thin upper lip with wide mouth.; normal skin, acne, but may just be consequence of puberty; Partial fusion of 1st and 2nd right rib, long fingers; Fondul oculi, normal; moderate myopia; Fetal pads; Recurrent fever 1 1 Johan den Dunnen
00404436 Pat16 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Netherlands - - - - - NDD birth 40w length 49 cm (-0.65 SD)birth 40w length 49 cm (-0.65 SD), weight 2.960 kg (-0.99 SD); height 130.5 cm (-1.92 SD), 11y6m-weight 31.3 kg (-1.08 SD), OFC 11 yrs 6 mnths - 50 cm (-3.26 SD); hypotonia; intellectual disability; deep set eyes, thin upper lip, prognathism; no feeding problems; normal skin; no urogenital anomalies; very pronated/flat feet, mild scoliosis; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; 1 1 Johan den Dunnen
00404437 Pat17 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Spain Catalonia - - - - NDD birth 38w length 43 cm (-3.05 SD)birth 38w length 43 cm (-3.05 SD), weight 2.1 kg (-2.25 SD), OFC 31.5 cm (-1.51 SD); height 83.0 cm (-1.5 SD), weight 10.69 kg (-1.4 SD), OFC 46.5 cm (-2.38 SD); Autism, bruxism, stereotypical hand wringing; MRI normal; global developmental delay; horizontal eyebrow, long eyelashes; chronic constipation; sacral dimple; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; 1 1 Johan den Dunnen
00404438 Pat18 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Israel - - - - - NDD birth 40w length 47.8 cm (-1.62 SD)birth 40w length 47.8 cm (-1.62 SD), weight 2.94 cm (-1.29 SD), OFC 34 cm (-0.95 SD); height 82 cm (-1.08 SD), weight 10.5 cm(-1.38 SD), OFC 46 cm (-3.02 SD); Axial hypotonia; brain MRI and MRS normal; severe global developmental delay; No coarse dysmorphism. Flat philtrum.; feeding problems; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; 1 1 Johan den Dunnen
00404439 Pat19 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United Kingdom (Great Britain) - - - - - NDD birth 40w length 51 cm (-0.02 SD)birth 40w length 51 cm (-0.02 SD), weight 3.1 kg (-0.95 SD), OFC 35 cm (-0.16 SD); height 171 cm (-0.95 SD), weight 65 kg (-0.63 SD), OFC 57 cm (-0.15 SD); neonatal/infancy hypotonia; MRI normal; severe intellectual disability, no speech; puffy face, thick upper and lower lip, open mouth; no feeding problems; dermatitis on scalp, face and back; no urogenital anomalies; tapering fingers, pes planus and valgus; no hearing loss; unilateral strabismus surgically corrected; normal haematopoiesis, normal iImmune functioning; smily, calm, affectionate, very rarely upset or angry; lives most of the time in his own world 1 1 Johan den Dunnen
00404440 Pat20 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - - Asia;white - - - - NDD birth 42w length 51 cm (-0.44 SD)birth 42w length 51 cm (-0.44 SD), weight 3.67 kg (-0.24 SD); height 153 cm (-1.03 SD), weight 51.5 kg (+0.16 SD), OFC 54.5 cm (-0.29 SD); walking on toes since age 17 m, at 15 years normal after extensive conservative (orthotics) therapy; severe intellectual disability, speech/language delay: speaks single words at age 16y, can repeat sentences when dictated, not spontaneous, communicates with simple sign language; full lips, small teeth with wide spacing; insatiable, craving for food, food seeking, difficulty chewing; 1 café-au-lait macula; no urogenital anomalies; no skeletal anomalies; no hearing loss; glasses, +1,25; strabism; no recurrent infections; tongue tie; sleeping problems, after menarche only menstruations once a year, cold hands and feet, positive emotional development in teenage years (more interaction, more pleasure in taking part in social activities) 1 1 Johan den Dunnen
00404441 Pat21 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Tunisia - - - - - NDD birth 39w length 48 cm (-0.76 SD)birth 39w length 48 cm (-0.76 SD), weight 2.47 kg (-1.74 SD), OFC 33 cm (-0.78 SD); height 106 cm (-1.52 SD), weight 15.2 kg (-2.03 SD), OFC 47.5 cm (-3.77 SD); Flapping, normal EEG; Motor delay: sitting acquired at 8 months, independant walking at 22 months Language impairment: words associations at 5 years, no sentence.; Low set ears, wide mouth, prominient nasal root, triangular shaped face, retrognathia; Transitory feeding difficulties , gastroesophageal reflux during the first year; normal skin; kidney: bilateral asymmetric hypoplasia (predominent on the left kidney).; no skeletal anomalies, normal wrist/rachis/pelvis/knee radiographs; no hearing loss; Strabismus, mild myopia; normal haematopoiesis, normal iImmune functioning; Heart: normal US exploration.; 1 1 Johan den Dunnen
00404442 Pat22 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - France - - - - - NDD birth length 50 cm (-0.12 SD)birth length 50 cm (-0.12 SD), weight 2.815 kg (-1.33 SD), OFC 33.3 cm (-1.01 SD); height 152 cm (-1.88 SD), weight 48.65 kg (-1.06 SD), OFC 52.5 cm (-2.12 SD); no neurological abnormalities; MRI normal; walk at 18 months, language delay, severe intellectual disability, agitation, attention disorder, sleep disorder; large mouth; Gastroesophageal reflux; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; precocious puberty (8 years) 1 1 Johan den Dunnen
00404443 Pat23 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - - white - - - - NDD birth 40w length 48.3 cm (-1.03 SD)birth 40w length 48.3 cm (-1.03 SD), weight 3.15 cm (-0.56 SD), OFC 34.3 cm (-0.2 SD); height 158.5 cm (-0.83 SD), weight 54.5 kg (-0.30 SD), OFC 49 cm (11 yrs) (-3.96 SD); seizures starting at 16 yrs, autism, hypotonia; MRI normal; severe intellectual disability (uses 5 words), walked at 3.5 yrs, mild LE spasticity;  pseudo-cleft lip, cleft palate, coarse facial features, brachycephaly, ears that are mildly displaced with thickened helices, striking epicanthal folds with very short, downslanting palpebral fissures, thick alae nasi, broad nasal bridge, and short neck; cleft soft palate; acne; no pubertal development; no skeletal anomalies; mild conductive loss associated with recurrent otitis media; strabismus; normal haematopoiesis, normal iImmune functioning; hypotonia with CP; impulsive behaviors, family history is significant for a sister who died during the neonatal period of causes unknown and another sister with tetralogy of Fallot, mild learning delays, and vertebral anomalies 1 1 Johan den Dunnen
00404444 Pat24 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - France - - - - - NDD birth length 49 cm (-1.02 SD)birth length 49 cm (-1.02 SD), weight 3.4 kg (-0.32 SD), OFC 34 cm (-0.95 SD); height 122 cm (-3.05 SD), weight 20 kg (-4.07 SD), OFC 47.5 cm (-4.46 SD); no neurological abnormalities; MRI normal; Mild developmental delay; facial dysmorphism; no feeding problems; hyperelasticity; no urogenital anomalies; scoliosis; no hearing loss; hyperopia; pulmonary valvular stenosis; 1 1 Johan den Dunnen
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