All individuals with variants in gene TPRKB

2 entries on 1 page. Showing entries 1 - 2.
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00431267 B123 PubMed: Braun 2017 family 2 affected (previous child of the family had M yes Egypt - 6y10m - - - NPHS 4.5y-proteinuria; 6y6m-end stage renal disease; 6.8y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, global developmental delay, profound intellectual disability, spasticity; MRI cranial marked brain atrophy with prominent cortical sulci, ventriculomegaly, periventricular white matter demyelination; dysmorphism vision/hearing: deafness; deceased due to pneumonia and sepsis.; steroid resistant nephrotic syndrome; previous child had microcephaly, seizures, 7m-renal failure, 13m-died of status epilepticus. 1 2 Johan den Dunnen
00431269 B1144 PubMed: Braun 2017 - M yes - Europe - - - - NPHS 3.8y-proteinuria; no end stage renal disease; 6y-alive with normal renal function; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, mild intellectual disability, progressive spasticity (wheelchair bound at 5.5y), coordination disorder, ataxia; MRI cranial pachygyria, periventricular leukomalacia; elongated face, epicanthal folds, slight hypertelorism, deep-set eyes, fleshy ear lobules, prominent chin; steroid resistant nephrotic syndrome (nephrotic range proteinuria, no edema, serum albumin 3.9 g/L) 1 1 Johan den Dunnen
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