All individuals with variants in gene UBE3A

45 entries on 1 page. Showing entries 1 - 45.
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Owner     
00016331 - - - ? - - - - - - - Healthy/Control - 1 1 Lab Zuffardi
00037313 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037314 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037315 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037316 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037317 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037318 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037319 - - - - - Germany - - - - - ? suspected Angelman syndrome 1 1 Andreas Laner
00037320 - - - - - Germany - - - - - ? severe developmental delay, microcephaly 1 1 Andreas Laner
00037321 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037322 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037323 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037324 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037325 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037326 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00080999 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - AS Angelman syndrome (OMIM:105830) 1 1 Daniel Trujillano
00132969 - - - F - (Germany) - - - - - ? Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Intention tremor (HP:0002080) 1 1 IMGAG
00164714 - - - F - (Germany) - - - - - ? Intellectual disability (HP:0001249); Severe expressive language delay (HP:0006863) 1 1 IMGAG
00180157 29286531-Pat09 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy (HP:0001250), atypical absence seizures (HP:0007270), severe intellectual disability (HP:0010864), attention deficit hyperactivity disorder (HP:0007018), growth delay (HP:0001510). 1 1 Johan den Dunnen
00180158 29286531-Pat10 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy (HP:0001250), global developmental delay (HP:0001263), EEG abnormality (HP:0002353), expressive language delay (HP:0002474), abnormality of corpus callosum (HP:0001273) 1 1 Johan den Dunnen
00183663 27620904-Pat08 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00229578 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 - M - Estonia - - - - - AS - 1 1 Sander Pajusalu
00276058 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Absent speech (HP:0001344); Seizures (HP:0001250); Intellectual disability (HP:0001249); Behavioral abnormality (HP:0000708); Sleep disturbance (HP:0002360); Intermittent hyperventilation (HP:0004879) 1 1 IMGAG
00295359 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295715 115522 - - M ? Finland - - - - - AS 4 year old boy with delayed speech and language development, Muscular hypotonia, Clumsiness, Sleep disturbance. Methylation and MLPA negative, FraX and VPS13B Seq + MLPA also negative 1 1 Andreas Laner
00303052 Pat97 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Onset/Angelman syndrome; age onset infantile 1 1 Johan den Dunnen
00303141 T23859 PubMed: Carvill 2013 2-generation family, 2 affected sibs, inherited from unaffected mother F - - - - - - - EE epileptic encephalopathy – features suggestive of Angelman syndrome 1 1 Johan den Dunnen
00303162 T2596 PubMed: Carvill 2013 - - - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00307782 UK10K_FINDWGA5411225 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307980 14DG0647 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Intellectual disability, Microcephaly, seizures, Hearing impairment 1 1 Johan den Dunnen
00308022 Pat1 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - ? severe global developmental delay, regression, dysmorphism 1 1 Johan den Dunnen
00325401 Pat14 PubMed: Hong 2020 - M - Taiwan - - - - - ? 11m-onset seizures; general tonic seizures; profound intellectual disability 1 1 Johan den Dunnen
00373658 iw036 - - F no China Chinese - - - - AS HP:0012768; HP:0000750; HP:0002194; HP:0010862; HP:0000736; HP:0001249 1 1 Wenjuan Qiu
00374531 S-3161 PubMed: Ganapathy 2019 - - - India - - - - - ? Delayed motor development, microcephaly, hypotonia, abnormal gait, ataxia and abnormal ECG 1 1 Johan den Dunnen
00374532 S-1732 PubMed: Ganapathy 2019 - - - India - - - - - ? Attention deficiency, delayed motor development, cognitive deficit, delayed speech, global developmental delay and autistic features 1 1 Johan den Dunnen
00375656 Pat51 PubMed: Srivastava 2014 - - - United States - - - - - ? intellectual disability/developmental delay; spastic diplegia; spastic diplegia, hypotonia, dystonia; hyper-reflexia; MRI brain delayed meylination 1 1 Johan den Dunnen
00380167 182023 - - M no Germany - - - - - AS Delayed speech and language development, Intellectual disability, Global developmental delay, Myoclonus, Absent speech, Involuntary movements, Severe global developmental delay, Abnormality of higher mental function, Neurodevelopmental delay, Neurodevelopmental abnormality 1 1 Andreas Laner
00390055 Pat2 PubMed: Kritioti 2021 - M - Cyprus Greece - - - - ? global developmental delay, hypotonia, glossoptosis, tapering fingers, plagiocephaly, over-folded ear helices, myopia 1 1 Johan den Dunnen
00427984 A054 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00438312 Pat30 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0000750 delayed speech and language development; HP:0002333 motor deterioration 1 1 Johan den Dunnen
00438722 HSC0041 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - - DEE - 1 1 Johan den Dunnen
00440383 PED2642.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00460918 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00461306 - - - F - - (not applicable) white - - - - NDD HP:0000252, HP:0000750, HP:0001250, HP:0001252, HP:0001347, HP:0002136, HP:0010864, HP:0032794 1 1 Marketa Wayhelova
00464066 321280 - - M ? Somalia - - - - - AS Neurodevelopmental delay, Delayed speech and language development, Risky behavior, Intellectual disability 1 1 Andreas Laner
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