All individuals with variants in gene HIST1H4I

3 entries on 1 page. Showing entries 1 - 3.
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00404446 Pat26 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - United Kingdom (Great Britain) - - - - - NDD height 127.6 cm (-2.04 SD), weight 24.4.kg (-2.08 SD), OFC 48 cm (-4.12 SD); learning difficulties, delayed visual acuity; social communication probs and learning difficulties; pre-auricular ear pit and 5 pre auricular tags, hypertelorism, short philtrum, prominent philtrum.; lactose intolerance; absent left kidney; hypermobility, bilateral mild webbing 3-4 fingers; moderate bilateral conductive hearing loss; decreased visual acuity; V shaped buttock cleft.; 1 1 Johan den Dunnen
00404447 Pat27 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - France - - - - - NDD birth 41+6w length 47 cm (-2.78 SD)birth 41+6w length 47 cm (-2.78 SD), weight 2.8 kg (-2.29 SD), OFC 34.5 cm (-1.41 SD); height 92 cm (-2.13 SD) (GH trmt), weight 11.18 kg (-3.34 SD), OFC 50 cm (-1.39 SD); hypotonia; MRI 23m-moderate enlargement of peri-cerebral spaces, pineal cyst 15mm, corpus callosum rather short remaining ht limits quite lower than normal with a ratio corpus callosum/OFC at 0.37; psychomotor delay, can sit but not walk; everted upper lip, depressed nasal bridge, micrognathia, strabism, low-set posteriorly rotated ears, right preauricular pits; G-tube dependent; micropenis cryptorchidism; Malposition of the toes; sero-muscous otitis; divergent strabismus with amblyopia; normal haematopoiesis, normal iImmune functioning; bilateral single palmar crease; 1 1 Johan den Dunnen
00404448 Pat28 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - United Kingdom (Great Britain);Belgium - 29y - - - NDD deceased; birth 40w length 54 cm (+2.02 SD)birth 40w length 54 cm (+2.02 SD), weight 3.66 kg (+0.55 SD), OFC 32.8 cm (-1.41 SD); height 161.5 cm (-0.38 SD), weight 55 kg (-0.42 SD), OFC 52 cm (-2.54 SD); intellectual disability; CT scan hydrocephaly; global developmental delay; narrow forehead, bi-temporal narrowing, arched eyebrows, hypertelorism, down-slanting palpebral fissures, high nasal bridge, short philtrum, large uvula with median raphe, misfolding ears, one preauricular pit on left side and 3 on right side; supernumerary nipple; severe bilateral vesico-ureteral reflux, pyeloureteral junction syndrome; rocker bottom feet, bilateral coronal craniosynostosis, dorsal kyphosis, scoliosis, left hand : 3-5 camptodactyly, right hand : 2-5 camptodactyly, bilateral sandal gap, bilateral halux valgus, bilateral partial 2-3 toes syndactyly; hearing loss : significant, bilateral, endocochlear dysfunction; strabismus - surgery at 14 y; myelodysplasia, leukaemia; ASDII; 1 1 Johan den Dunnen
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