All individuals with variants in gene PPP2R5C

28 entries on 1 page. Showing entries 1 - 28.
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00440389 PED2763.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00464471 COG0681;Pat2 PubMed: Loveday 2015, PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - OGS see paper; ..., birth-37w, weight 3100g (0.8SD), OFC 36cm (2.4SD), floppy, poor neonatal feeding; 2y-febrile seizures; moderate intellectual disability; high arched palate, telecanthus, mild facial asymmetry; conductive hearing loss; 9.3y- height SD1.6, OFC SD3.3 1 1 Johan den Dunnen
00465180 Pat36 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; mild epilepsy; height normal, OFC SD+2.6; no hypotonia; no autism spectrum disorder; nystagmus; MRI brain normal 1 2 Johan den Dunnen
00465181 Pat9 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+2.2; no hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision; MRI brain normal 1 1 Johan den Dunnen
00465182 Pat32 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., moderate neurodevelopmental delay; severe epilepsy; heigth SD+2, OFC SD+5.4; hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain large cisterna magna 1 1 Johan den Dunnen
00465183 Pat21 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., learning difficulties; no epilepsy; height normal, OFC SD+5.2; mild hypotonia; tall forehead, hypertelorism; no autism spectrum disorder; normal eye vision; MRI brain normal 1 1 Johan den Dunnen
00465184 Pat1 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; OFC normal; hypotonia; epicanthus; no autism spectrum disorder; normal eye vision; MRI brain normal 1 1 Johan den Dunnen
00465185 Pat6 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; no epilepsy; height normal, OFC SD+3.6; neonatal jaundice; hypotonia; tall forehead, hypertelorism; no autism spectrum disorder; normal eye vision; MRI brain hyperintense white matter foci 1 1 Johan den Dunnen
00465186 Pat8 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; heigth SD-2, OFC SD+4.8; hypotonia; tall forehead; autism spectrum disorder; normal eye vision; MRI brain hyperintense white matter foci 1 1 Johan den Dunnen
00465187 Pat5 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+3.2; hypotonia; tall forehead, hypertelorism; autism spectrum disorder; normal eye vision; MRI brain normal 1 1 Johan den Dunnen
00465188 Pat35 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+4; mild hypotonia; no autism spectrum disorder; normal eye vision 1 1 Johan den Dunnen
00465189 Pat18 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; heigth SD-2, OFC SD+2.2; neonatal poor feeding; hypotonia; no autism spectrum disorder; strabismus; MRI brain mildly enlarged ventricles 1 1 Johan den Dunnen
00465190 Pat19 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC SD+6; neonatal poor feeding; hypotonia; no facial dysmorphism; no autism spectrum disorder; strabismus; MRI brain normal 1 1 Johan den Dunnen
00465191 Pat11 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC SD+4.4; neonatal lethargy; no hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain abnormal sulcation 1 1 Johan den Dunnen
00465192 Pat29 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - HJS see paper; ..., moderate neurodevelopmental delay; severe epilepsy; height normal, OFC SD+3; neonatal jaundice; no hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision 1 1 Johan den Dunnen
00465193 Pat12 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+2.6; mild hypotonia; tall forehead; no autism spectrum disorder; normal eye vision; MRI brain slight corpus callosum hypoplasia 1 1 Johan den Dunnen
00465194 Pat7 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC normal; neonatal poor feeding, jaundice; mild hypotonia; tall forehead; autism spectrum disorder; eye vision CVI; MRI brain hyperintense white matter foci 1 1 Johan den Dunnen
00465195 Pat26 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC normal; neonatal poor feeding; hypotonia; congenital pyloric stenosis; tall forehead, high palate; eye vision CVI; MRI brain mildly enlarged ventricles 1 1 Johan den Dunnen
00465196 Pat16 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; severe epilepsy; height normal, OFC normal; neonatal poor feeding; mild hypotonia; tall forehead, high palate; no autism spectrum disorder; normal eye vision; MRI brain hippocampal sclerosis 1 1 Johan den Dunnen
00465197 Pat28 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay ax; no epilepsy; height normal, OFC SD+2; neonatal poor feeding; mild hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision; MRI brain normal 1 1 Johan den Dunnen
00465198 Pat10 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+2.4; mild hypotonia; congenital coloboma; no facial dysmorphism; no autism spectrum disorder; coloboma; MRI brain large corpus callosum 1 1 Johan den Dunnen
00465199 Pat30 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+3; neonatal nystagmus; mild hypotonia; tall forehead; no autism spectrum disorder; nystagmus, bilateral ptosis; MRI brain large corpus callosum 1 1 Johan den Dunnen
00465200 Pat14 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+2; hypotonia; tall forehead; no autism spectrum disorder; MRI brain normal 1 1 Johan den Dunnen
00465201 Pat25 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC normal; mild hypotonia; congenital bilateral foot deformity; no autism spectrum disorder; normal eye vision; MRI brain normal 1 2 Johan den Dunnen
00465202 Pat37 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC normal; no hypotonia; no congenital malformation; no autism spectrum disorder; normal eye vision 1 1 Johan den Dunnen
00465203 Pat22 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., learning difficulties; no epilepsy; heigth SD-2.7, OFC SD−2.8; neonatal poor feeding; hypotonia; epicanthus; no autism spectrum disorder; normal eye vision 1 1 Johan den Dunnen
00465204 Pat3 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - HJS see paper; ..., learning difficulties; no epilepsy; height normal, OFC normal; neonatal suspected drug exposure in utero; hypotonia; no congenital malformation; flat occiput; no autism spectrum disorder; normal eye vision; MRI brain normal 1 1 Johan den Dunnen
00465205 Pat23 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+4.9; hypotonia; congenital coloboma; no autism spectrum disorder; nystagmus; MRI brain normal 1 1 Johan den Dunnen
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