All individuals with variants in gene HIST1H4J

3 entries on 1 page. Showing entries 1 - 3.
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00213099 - personal communication - - - - - - - - - ? - 1 1 Johan den Dunnen
00266138 - - - M no United States - - - - - ? Microcephaly, hypotonia, developmental delay, growth retardation, intellectual disability MRI: Mild prominence of the supratentorial sulci and cisterns Craniofacial features: upslanting palpebral fissures, hypertelorism, periorbital fullness, flat nasal bridge, wide mouth, short philtrum Other: Pervasive developmental delay, hypospadias 1 1 Sanne Savelberg
00404449 Pat29 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - France - - - - - NDD birth 37w length 43 cm (-2.81 SD), weight 1.93 kg (-2.41 SD), OFC 29 cm (-3.39 SD); height 64.5 cm (-3.24 SD), weight 6.5 kg (-3.37 SD), OFC 40.5 cm (-5.14 SD); neonatal hypotonia, language delay; delayed development (headgear acquired at 8 months, poor gestures at 10 months, amimia, he turns around at 15 months); round face, epicanthi, almond-shaped eyes, upslanting palpebral fissures, broad nasal bridge, down-turned corners of mouth, everted upper lip vermilion; nasogastric tube during the first three weeks of life, oral disorder; clear skin; hypospadias, bilateral cryptorchidism; 30dB threshold on the right and 40 dB on the left with transtympanic aerators; normal haematopoiesis, normal iImmune functioning 1 1 Johan den Dunnen
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