All individuals with variants in gene TP53RK

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Age at death     
VIP     
Data_av     
Treatment     
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Phenotype details     
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00431207 Pat1 PubMed: Chen 2023 - M no China - - - - - GAMOS4 - 2 1 Min Peng
00431208 Pat2 PubMed: Chen 2023 - M no China - - - - - GAMOS4 - 2 1 Min Peng
00431209 Pat3 PubMed: Chen 2023 - F - China - - - - - GAMOS4 - 2 1 Min Peng
00431274 N2194 PubMed: Braun 2017 - F yes Morocco - 3y - - - NPHS 10m-proteinuria; 3y-end stage renal disease; 3y-died; primary microcephaly, developmental delay, hypotonia; MRI cranial bilateral myelination defects vision/hearing: reduced visual evoked potential; nephrotic syndrome 1 1 Johan den Dunnen
00431275 N2984 PubMed: Braun 2017 - F yes Thailand - - - - - NPHS 1y-proteinuria; 2y6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy; large and protruding ears, hypertelorism; nephrotic syndrome 1 1 Johan den Dunnen
00431286 B77-21 PubMed: Braun 2017 family, 2 affected sibs M yes South Africa;India Europe 11m - - - NPHS 2m-end stage renal disease; 11m-died; biopsy 1y-focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism; congenital nephrotic syndrome 2 2 Johan den Dunnen
00431287 B77-22 PubMed: Braun 2017 sib F yes South Africa;India - 2m15d - - - NPHS 2m-proteinuria; 2.5m-died; biopsy diffuse mesangial sclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism.; congenital nephrotic syndrome congenital nephrotic syndrome 2 1 Johan den Dunnen
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