All individuals with variants in gene HIST1H4C

9 entries on 1 page. Showing entries 1 - 9.
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00213096 28920961-Pat1 PubMed: Tessadori 2017 2-generation family, 1 affected F - United Kingdom (Great Britain) - - - - - ? growth retardation, intellectual disability, microcephaly, hypotonia, upslanting palpebral fissures, bifid flat nasal tip, median ridge on philtrum, wide mouth, foot ray anomaly 2 1 Johan den Dunnen
00213097 28920961-FamPat2 PubMed: Tessadori 2017 2-generation family, affected sisters F no Netherlands - - - - - ? growth retardation, intellectual disability, microcephaly, hypotonia, upslanting palpebral fissures, bifid flat nasal tip, median ridge on philtrum, wide mouth, foot ray anomaly (implantation fourth ray (bilateral)) 2 2 Johan den Dunnen
00213098 28920961-FamPat3 PubMed: Tessadori 2017 Pat3 F no Netherlands - 00y00m11d - - - ? growth retardation, microcephaly, no hypotonia, upslanting palpebral fissures, bifid flat nasal tip, foot ray anomaly (short fourth ray on the right foot); 11d-died from massive thrombosis 2 1 Johan den Dunnen
00404421 Pat1 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United Kingdom (Great Britain) - - - - - NDD small in utero; height 166.5 cm (+0.71 SD), weight 53 kg (+0.56 SD), OFC 53.3 cm (-1.49 SD); low muscle tone, tip toe walking; normal; mild intellectual disability, developmental delay, speech delay, social communication difficulties; prominent and wide nasal bridge, short columnella, thin vermillion of upper and lower lip, smooth philtrum, widely spaced teeth; no feeding problems; normal skin; no urogenital anomalies; sandal gap, 2-3 toe syndactyly; no hearing loss; myopia; normal haematopoiesis, normal iImmune functioning; na 1 1 Johan den Dunnen
00404422 Pat2 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Netherlands - - - - - NDD height 124 cm (-0.1 SD), weight 22 kg (-0.7 SD), OFC 50 cm (-2.36 SD); mild ataxia; MRI delayed myelination; mild dev delay, walking at 21 mths. Mild speech development delay, problems with word recognition, some attention problems; mild brachycephalic skull, mild dysmorphic features - round eyes (dark under eyelids), protruding ears, round nasal tip, large mouth with thin upper lip, large incisors; no feeding problems; normal skin; no urogenital anomalies; mild clinodactyly of 5th fingers; no hearing loss; hypermetropia; 1 1 Johan den Dunnen
00404423 Pat3 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - United States Jew-Ashkenazi - - - - NDD birth 38w length 50.8 cm (+1.2 SD)birth 38w length 50.8 cm (+1.2 SD), weight 2.89 kg (-0.26 SD), OFC 33 cm (-0.31 SD); height 123.7 cm (+.82 SD), weight 22 kg (-0.06 SD), OFC 49.5 cm (-2.48 SD; Hypotonia, autism, severe ADHD with atypical reactions (crying) to medication High tolerance for pain (but not recurrent injuries) Staring spells when younger - had EEG that was negative. She doesn't have these as often and responds to stimuli.; MRI no abnormalities, incidental cystic change of the pineal gland noted, normal MRS (left basal ganglia); Motor: sitting up 5-6 months, standing with support 6-7 months and then stopped doing it, stopped progressing in gross motor area. Between 8-10 months, she refused to put her feet on the ground, some regression. Slow to progress to crawling, late to cross midline. Started PT around 10-11 months of age with Early Intervention. 12 months of age, private physical therapist. Crawling at 12-13 months of age. Walking at 18 months. Fine motor seemed behind around 1 year of age. Delayed pincer grasp. Language delayed in learning words and speaking sentences. Neurology eval at 15 months. Very social baby and child. Made good eye contact, smiles, responsive, loves being around people. Arm flapping. Low-average IQ.; no facial dysmorphism; no feeding problems; normal skin; no urogenital anomalies; Required SMOs for pronated ankles; no hearing loss, not formally evaluated, no concerns; normal vision; normal haematopoiesis, normal iImmune functioning; most hyperactive (driven by a motor) children I've seen 1 1 Johan den Dunnen
00404424 Pat4 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Thailand Europe-N - - - - NDD birth 40w length 49 cm (-1.02 SD)birth 40w length 49 cm (-1.02 SD), weight 2.96 kg (-1.25 SD), OFC 33 cm (-1.73 SD); height 135.6 cm (-2.82 SD), weight 26.4 kg (-3.44 SD), OFC 49.5 cm (-3.74 SD); Cortical vision impairment, severe autism, normal power, poor coordination, no seizures; MRI toddler- brain and spine normal; Severe global dev delay. Walked 5 yrs. 13yrs; non-verbal, affectionate, not toilet trained. Occasionally feeds self.; Relative hypertelorism, long palpebral fissures, prominent epicanthal folds, eyebrows sparce laterally, low nasal bridge, broad nasal tip with ridge, wide philtrum, tented upper lip, small ears, overfolded helices, dental crowding, wide gap central incisors.; fed until 6 months, suddenly stopped and required NG tube feeding until 18 months old.; hydrocoele, minor chordee; bilateral talipes; flat tympanograms, hard wax obstructing canals; cortical vision impairment; persistent macrocytosis of unknown cause; dental crowding, wide gap central incisors.; mild dilatation of aortic root since 10yrs, mild mitral valve prolapse, very little subcutaneous fat. poor muscle development generally. 1 1 Johan den Dunnen
00404425 Pat5 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Germany Europe-M - - - - NDD birth 33+0w length 37 cm (-2.52 SD)*birth 33+0w length 37 cm (-2.52 SD)*, weight 1.24 kg (-2.52 SD)*, OFC 33 cm (+1.83 SD)*; height 92 cm (-3.7 SD), weight 11.5 kg (-3.97 SD), OFC 46.8 cm (-4.07 SD); muscle hypotonia; normal; severe intellectual disability and develomental delay, muscle hypotonia, seizures; upslanting palpebral fissures, periorbital fullness, bifid flat nasal tip, ptosis, hypertelorism, wide mouth; feeding difficulties; normal skin; coronal hypospadias, nondescended testes; Sagittal suture synostosis; no hearing loss; hyperopie, astigmatismus, LA Strabismus concergent intermittens; normal haematopoiesis, normal iImmune functioning; VSD I; unclear increased renal values with otherwise inconspicuous kidney imaging 1 1 Johan den Dunnen
00404426 Pat6 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United States Hispanic - - - - NDD birth 40w length 46.4 cm (-2.32 SD)birth 40w length 46.4 cm (-2.32 SD), weight 2.872 kg (-1.44 SD), OFC 34.3 cm (-0.71 SD); height 113.4 cm (-1.65 SD), weight 19.1 kg (-1.51 SD), OFC 50 cm (at 6 yrs) (-2.07 SD); moderate hypotonia, autism spectrum disorder, borderline intellectual functioning; MRI nonspecifc scattered foci of T2 prolongation in the supratentorial white matter. Otherwise normal.; sat at 12 months, walked at 2 yrs. Age 2 had 35-45 words.; tented upper lip, marked facial flattening, right esotropia, dolichocephaly; no feeding problems; normal skin; no urogenital anomalies; no skeletal anomalies; conductive hearing loss; normal haematopoiesis, normal iImmune functioning; obstructive sleep apnea; borderline intellectual functioning, a provisional diagnosis of autism spectrum disorder, hypotonia, short stature and dysmorphic features. There has been some debate on whether or not he has strabismus 1 1 Johan den Dunnen
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