All individuals with variants in gene PAX5

16 entries on 1 page. Showing entries 1 - 16.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00404312 Pat1 PubMed: Gofin 2022 2-generation family, 3 affected sibs M - - - - - - - NDD see paper; ..., autism spectrum disorder 1 3 Johan den Dunnen
00404313 Pat2 PubMed: Gofin 2022 fraternal twin Pat3 M - - - - - - - NDD see paper; ..., autism spectrum disorder 1 1 Johan den Dunnen
00404314 Pat3 PubMed: Gofin 2022 fraternal twin Pat2 M - - - - - - - NDD see paper; ..., autism spectrum disorder 1 1 Johan den Dunnen
00404315 Pat4 PubMed: Gofin 2022 - M - - Hispanic - - - - NDD see paper; ..., autism spectrum disorder, delayed developmental milestones, intellectual disability, seizures 1 1 Johan den Dunnen
00404316 Pat5(DECIPHER-323105) PubMed: Gofin 2022 - M - - - - - - - NDD see paper; ..., delayed developmental milestones, intellectual disability, MRI-brain normal 1 1 Johan den Dunnen
00404317 1-0255-003;Pat6 PubMed: Yuen 2017, PubMed: Gofin 2022 - M - - Asia-E - - - - NDD see paper; ..., developmental delay, no intellectual disability, autism spectrum disorder, no seizures, attention deficit hyperactivity disorder, aggression 1 1 Johan den Dunnen
00404318 12858.p1;Pat7 {O'Roak 2014:}, PubMed: Gofin 2022 - F - - Asia - - - - NDD see paper; ..., developmental delay, no intellectual disability, autism spectrum disorder, no seizures 1 1 Johan den Dunnen
00404319 Pat8 PubMed: Gofin 2022 - F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability, autism spectrum disorder, no seizures 1 1 Johan den Dunnen
00404320 220-9860-201;Pat9 {O'Roak 2014:}, PubMed: Gofin 2022 - F - - - - - - - NDD see paper; ..., no developmental delay, no intellectual disability, autism spectrum disorder, no seizures 1 1 Johan den Dunnen
00404321 Pat10 PubMed: Gofin 2022 2-generation family, 2 affeected M - - white;Hispanic - - - - NDD see paper; ..., developmental delay, intellectual disability, no autism spectrum disorder, no seizures; MRI brain pituitary cyst, arachnoid cyst, mild bilateral under opercularization, T2 hyperintensity posterior centrum semi-ovale; hypotonia, mild scoliosis 1 2 Johan den Dunnen
00404322 Pat11 PubMed: Gofin 2022 brother M - - white;Hispanic - - - - NDD see paper; ..., developmental delay, intellectual disability, autism spectrum disorder, no seizures; profound left-sided sensorineural hearing loss 1 1 Johan den Dunnen
00404323 SP0016232;Pat12 PubMed: Feliciano 2019, PubMed: Gofin 2022 - M - - white - - - - NDD see paper; ..., developmental delay, intellectual disability, autism spectrum disorder, no seizures 1 1 Johan den Dunnen
00404324 Pat13 PubMed: Gofin 2022 - M - - Europe - - - - NDD see paper; ...,no developmental delay, intellectual disability, autism spectrum disorder, seizures; MRI brain normal; hypotonia, anxiety, obsessive behavior, sensorineural hearing loss 1 1 Johan den Dunnen
00404325 Pat14 PubMed: Gofin 2022 - F - - Italy;Germany;Ireland;England - - - - NDD see paper; ..., developmental delay, seizures; MRI brain normal 1 1 Johan den Dunnen
00404326 Pat15 PubMed: Gofin 2022 2-generation family, 2 affeected M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability, no autism spectrum disorder, seizures; MRI brain thin corpus callosum, paucity of periventricular white matter; attention deficit hyperactivity disorder, distal muscle atrophy in upper and lower extremities, hammertoes and high arches, EMG chronic motor-sensory polyneuropathy 1 2 Johan den Dunnen
00404327 Pat16 PubMed: Gofin 2022 sister F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability, no autism spectrum disorder, no seizures; MRI brain thin corpus callosum; mild distal muscle atrophy, pes cavus 1 1 Johan den Dunnen
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