All individuals with variants in gene H3F3A

46 entries on 1 page. Showing entries 1 - 46.
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00088114 - PubMed: Gielen 2013 129 glial tumor cases F;M - Germany - - - - - GLM glioblastoma multiforme (HP:0012174), WHO grade IV 1 35 Johan den Dunnen
00088115 - PubMed: Gielen 2013 28 glial tumor cases F;M - Germany - - - - - GLM anaplastic astrocytomas (HP:0009592), WHO grade III 1 5 Johan den Dunnen
00088116 - PubMed: Gielen 2013 glial tumor cases - - Germany - - - - - GLM glioblastoma multiforme (HP:0012174), WHO grade IV 1 7 Johan den Dunnen
00088117 - PubMed: Gielen 2013 glial tumor cases - - Germany - - - - - GLM anaplastic oligoastrocytomas, WHO grade III 1 1 Johan den Dunnen
00444502 Pat4 PubMed: Riquin 2023 patient M - France - - - - - NDD Moderate global developmental delay, severe language delay with first words at 3 years old, behavior troubles, stereotypy 1 1 Johan den Dunnen
00444504 Pat6 PubMed: Riquin 2023 patient F - France - - - - - NDD Epileptic encephalopathy, facial dysmorphism, ventricular dilatation, myelination delay 1 1 Johan den Dunnen
00465870 331975 - - M ? Syria - - - - - BRYLIB Delayed speech and language development, Neurodevelopmental delay, Delayed gross motor development, Overlapping toe, Abnormal cheek morphology, Abnormal skin morphology, Downslanted palpebral fissures, Gingival overgrowth 1 1 Andreas Laner
00465877 Pat1 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465878 Pat2 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465879 Pat3 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465880 Pat4 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465881 Pat5 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465882 Pat6 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465883 Pat7 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465884 Pat8 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465885 Pat9 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465886 Pat10 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465887 Pat11 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465888 Pat12 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465889 Pat13 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465890 Pat14 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465891 Pat15 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465892 Pat16 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465893 Pat17 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465894 Pat18 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465895 Pat19 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465896 Pat20 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465897 Pat21 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465898 Pat22 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465899 Pat23 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465900 Pat24 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465901 Pat25 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465902 Pat26 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465903 Pat27 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465904 Pat28 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465905 Pat29 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465906 Pat30 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465907 Pat31 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465908 Pat32 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD - 1 1 Johan den Dunnen
00465909 Pat33 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD - 1 1 Johan den Dunnen
00465924 Pat1 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDD see paper; ..., prenatal unremarkable, uneventful; birth respiratory distress, difficulty feeding; short stature, failure to thrive; global developmental delay (gross/fine motor and speech), happy demeanor, water affinity; microcephaly, hypotonia, wide-based gait mild, spasticity lower extremities; MRI brain moderately diminished white matter in anterior halves both cerebral hemispheres along with hypomyelination accompanied by ventriculomegaly; facial asymmetry, hypoplastic helix, long and upslanting palpebral fissures, prognathia, long thin fingers, camptodactyly, fingertip pads; esotropia; joint hypermobility, pes planus; no cardiac anomalies 1 1 Johan den Dunnen
00465925 Pat2 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDD see paper; ..., intrauterine growth retardation; short stature; global developmental delay (gross motordelay, speech delay), intellectual disability, happy demeanor; microcephaly, hypotonia, hypertonia lower extremities, seizures, drooling, wide-based gait; brachycephaly, synophrys, mild hypotelorism, midface hypoplasia, open mouth appearance, full lips, protruding lower teeth, small hands/feet; no visual impairments; scoliosis; constipation; no cardiac anomalies; teeth issues 1 1 Johan den Dunnen
00465926 Pat3 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD see paper; ..., prenatal unremarkable, uneventful; birth unremarkable; short stature, failure to thrive; global developmental delay (gross moto dealy, speech delay); microcephaly, hypotonia, seizures, drooling, ataxia; no dysmorphism; strabismus; joint hypermobility, pes planus; constipation, gastroesophageal reflux disease; no cardiac anomalies; sleep dysregulation, reduced sweating, erythema multiforme 1 1 Johan den Dunnen
00465927 Pat4 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD see paper; ..., prenatal unremarkable, uneventful; premature birth; short stature, growth hormone deficiency, delayed bone age (-3 to -4 SD), failure to thrive; global developmental delay (gross motor delay, fine motor delay, speech delay) happy demeanor; relative macrocephaly, hypotonia (r>l), abnormal gait; MRI brain borderline, macrocephaly; facial asymmetry (r>l), slightly low-set ears, long eyelashes, open mouth appearance, pointed chin, bilateral branchial remnant (s/p) (more prominent on right), fingertip pads, small hands/feet; no visual impairments; mild asymmetry ower extremities (r>l), mild pes planus; resolved pulmonary artery branch stenosis, resolved premature atrial contractions; delayed teeth eruption, chronic dysfunction of eustachian tubes, adenoid hypertrophy 1 1 Johan den Dunnen
00465934 Pat11 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - NDD - 1 1 Johan den Dunnen
00465935 Pat12 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - NDD - 1 1 Johan den Dunnen
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