All individuals with variants in gene PACS2

19 entries on 1 page. Showing entries 1 - 19.
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00164664 29656858-Pat1 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164665 29656858-Pat2 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164666 29656858-Pat3 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164667 29656858-Pat4 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164668 29656858-Pat5 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164669 29656858-Pat6 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164670 29656858-Pat7 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164671 29656858-Pat8 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164672 29656858-Pat9 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164673 29656858-Pat10 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164674 29656858-Pat11 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164675 29656858-Pat12 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164676 29656858-Pat13 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00164677 29656858-Pat14 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - ? see paper; ..., neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis 1 1 Johan den Dunnen
00205869 patient8 - - F no China - - - - - epilepsy - 1 1 Jinliang Li
00301268 - PubMed: Minardi 2020 - M - Italy - - - - - EIEE - 1 1 Francesca Bisulli
00306187 85 - - M - China - - - - - ? - 1 1 Sha Hong
00440413 PED2234.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00466504 patient PubMed: Saneto 2022, Journal: Saneto 2022 - M - United States - - - - - seizures see paper; ..., neonatal onset seizures, mild dysmorphic features, developmental delay; birth cesarean delivery, hypotonic, high arched palate, micrognathia, muscular cardiac ventricle septal defect, micropenis; poor suck, difficulty with latching, required feeding tube; 5d-seizures, EEG abnormal, focal seizures 1 1 Johan den Dunnen
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