All individuals with variants in gene GRIN2B

152 entries on 2 pages. Showing entries 1 - 100.
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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     
00017830 - PubMed: Endele 2010 - M no Germany - - - - - ID see paper; moderate mental retaration, no seizures, EEG irregular slow dysrhythmia, behavioral anomalies, no MRI scan anomalies, no eye anomalies, no other anomalies 2 1 Johan den Dunnen
00017831 Pat9 PubMed: Endele 2010 - F no Germany - - - - - ID see paper; moderate intellectual disability, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies (hyperactivity, short attention span, sleep disturbance, stereotypies, friendliness), MRI scan not performed, no facial dysmorphism, no eye anomalies, no other anomalies; 24m-walk; 28m-first words 1 1 Johan den Dunnen
00017832 Pat5 PubMed: Endele 2010 - M no Germany - - - - - ID see paper; no microcephaly, mild mental retardation, no seizures, no EEG anomalies, behavioral anomalies (short attention span, aggressiveness, stereotypies, friendliness), no MRI scan anomalies, no facial dysmorphism, no eye anomalies, no other abnormalities; 20m-walk; 18m-first words 1 1 Johan den Dunnen
00017833 - PubMed: Endele 2010 - F no - European - - - - ID see paper; mild mental retardation, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies, no MRI scan performed, no facial dysmorphism, no eye anomalies, hypothyroidism 2 1 Johan den Dunnen
00024243 - PubMed: Gilissen 2014 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00039406 - PubMed: Bosch 2016, Journal: Bosch 2016 - M - Netherlands - - - - - CVI, ID see paper; ... 1 1 Danielle Bosch
00050625 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, delayed cns myelination, neonatal hypotonia 1 1 Johan den Dunnen
00080992 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - MRD6 Mental retardation, autosomal dominant 6 (OMIM:613970) 1 1 Daniel Trujillano
00080998 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - MRD6 Mental retardation, autosomal dominant 6 (OMIM:613970) 1 1 Daniel Trujillano
00116814 S_124:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116908 S_319:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116925 S_36:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116928 S_370:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116966 S_469:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00164708 - - - ? - (Germany) - - - - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250); Autistic behavior (HP:0000729) 1 1 IMGAG
00180159 29286531-Pat11 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Microcephaly (HP:0000252), infantile spasms (HP:0012469), severe global developmental delay (HP:0011344), inability to walk (HP:0002540), (wide viscerocranium), bitemporal narrowing (HP:0000341), preauricular pit (on the right side) (HP:0004467), tapering fingers (HP:0001182), hypoplastic distal phalanges (HP:0009882). 1 1 Johan den Dunnen
00183051 Trio25 PubMed: de Ligt 2012 - M - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00248152 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Leukoencephalopathy (HP:0002352) 1 1 IMGAG
00261174 Fam8 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); abnormal corpus callosum (HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); strabism, exotropia, sleep apnea; deep set eyes, long stright nose, flat malar, self-stimulating behavior 1 1 Johan den Dunnen
00290647 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 89 Mohammed Faruq
00290648 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 17 Mohammed Faruq
00302772 838.321 PubMed: Hamdan 2015 - M - Canada - - - - - ID severe intellectual disability; no speech; not walking; no epilepsy; no autistic features; acquired microcephaly; no macrocephaly; MRI brain minimal cerebellar vemis hypoplasia and left temporal atrophy; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities 1 1 Johan den Dunnen
00302999 Pat44 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal 1 1 Johan den Dunnen
00304338 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00304339 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307739 UK10K_FINDWGA5411446 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307740 UK10K_FINDWGA5411556 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - - - - ID - 1 1 Johan den Dunnen
00310674 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., moderate intellectual disability, autism spectrum disorder 1 1 Johan den Dunnen
00310675 - PubMed: Retterer 2015 - - - United States - - - - - NDD see paper; ..., microcephaly, autism, dystonia, developmental delay 1 1 Johan den Dunnen
00310676 FamPatII1 PubMed: Adams 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - Jew-Ashkenazi - - - - NDD, PCKDC episodic fasting hypoglycemia, lactic acidemia, see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 2 Johan den Dunnen
00310677 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., moderate intellectual disability, autism spectrum disorder, focal seizures, generalised seizures 1 1 Johan den Dunnen
00310678 13932.p1 PubMed: O'Roak 2012 - M - - - - - - - NDD see paper; ..., autism spectrum disorder/intellectual disability 1 1 Johan den Dunnen
00310679 - PubMed: Epi4K Consortium 2013 - M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability, autism spectrum disorder, generalised seizures 1 1 Johan den Dunnen
00310680 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, generalised seizures, microcephaly 1 1 Johan den Dunnen
00310681 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., mild intellectual disability 1 1 Johan den Dunnen
00310682 - PubMed: O'Roak 2014 - - - - - - - - - NDD see paper; ..., autism spectrum disorder, intellectual disability 1 1 Johan den Dunnen
00310683 Pat3 PubMed: Lemke 2014 - F - Switzerland - - - - - NDD see paper; ..., mild intellectual disability, focal seizures 1 1 Johan den Dunnen
00310684 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder, focal seizures, generalised seizures 1 1 Johan den Dunnen
00310685 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder, generalised seizures, dystonic movement disorder 1 1 Johan den Dunnen
00310686 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability 1 1 Johan den Dunnen
00310687 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00310688 - PubMed: Yavarna 2015 - - - Qatar Middel-East - - - - NDD see paper; ..., lobal developmental delay, dysmorphic features 1 1 Johan den Dunnen
00310689 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, generalised seizures, microcephaly 1 1 Johan den Dunnen
00310690 Pat2 PubMed: Lemke 2014 - F - Switzerland - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder, epileptic spasms, generalised seizures, microcephaly 1 1 Johan den Dunnen
00310691 DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310692 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, generalised seizures, generalised cerebral volume loss, microcephaly 1 1 Johan den Dunnen
00310693 Pat1 PubMed: Lemke 2014 - M - Switzerland - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, dystonic movement disorder 1 1 Johan den Dunnen
00310694 - PubMed: Retterer 2015 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree 1 1 Johan den Dunnen
00310695 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder, generalised seizures, developmental regression 1 1 Johan den Dunnen
00310696 DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310697 patient PubMed: Freunscht 2013 2-generation family, 1 affected, unaffected non carrier parents F - Germany - - - - - NDD see paper; ..., mild intellectual disability; 25m-walking; 10m-first words; no seizures; EEG sharp wave complexes temporoparietal; MRI cranial normal; hyperactivity, short attention span, sleep disturbance, no aggressiveness, no stereotypies, friendliness 1 1 Johan den Dunnen
00310698 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, focal seizures, malformation of cortical development, microcephaly, cortical visual impairment 1 1 Johan den Dunnen
00310699 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, focal seizures, generalised seizures, malformation of cortical development, cortical visual impairment 1 1 Johan den Dunnen
00310700 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, generalised seizures, malformation of cortical development, microcephaly, cortical visual impairment 1 1 Johan den Dunnen
00310701 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310702 Pat1503 PubMed: Zhang 2015 - M - China - - - - - NDD see paper; ..., severe intellectual disability, partial seizures, infantile spasms, myoclonus, tonic, 6m-startle 1 1 Johan den Dunnen
00310703 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, seizures 1 1 Johan den Dunnen
00310704 DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310705 - PubMed: Retterer 2015 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree 1 1 Johan den Dunnen
00310706 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, focal seizures, generalised seizures, generalised cerebral volume loss, microcephaly 1 1 Johan den Dunnen
00310707 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, dyskinetic movement disorder 1 1 Johan den Dunnen
00310708 DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310709 DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310710 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, focal seizures, generalised seizures, malformation of cortical development 1 1 Johan den Dunnen
00310711 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00310712 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., moderate intellectual disability, autism spectrum disorder 1 1 Johan den Dunnen
00310713 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., moderate intellectual disability, autism spectrum disorder, generalised seizures 1 1 Johan den Dunnen
00310714 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, focal seizures 1 1 Johan den Dunnen
00310715 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310716 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder 1 1 Johan den Dunnen
00310717 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., mild intellectual disability 1 1 Johan den Dunnen
00310718 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310719 DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310720 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, focal seizures, malformation of cortical development, microcephaly 1 1 Johan den Dunnen
00310721 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, generalised seizures, malformation of cortical development 1 1 Johan den Dunnen
00310722 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310723 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., developmental delay, epileptic spasms, focal seizures, generalised seizures, cortical visual impairment 1 1 Johan den Dunnen
00310724 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310725 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, epileptic spasms, dyskinetic movement disorder 1 1 Johan den Dunnen
00310726 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., developmental delay 1 1 Johan den Dunnen
00310727 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder, generalised cerebral volume loss 1 1 Johan den Dunnen
00310728 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder 1 1 Johan den Dunnen
00310729 DECIPHER - from DECIPHER database - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310730 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310731 Pat60 PubMed: Zhu 2015 - M no Israel - - - - - NDD oligohydramnios, microcephaly (severe brachycephaly), chorea, stereotypic movements, Rett-like picture, profound intellectual disability (no regression), epileptic activity on EEG but no epilepsy, mild hypermetropia, deep seated eyes, strabismus, hyperactive deep tendon reflex, increased muscle tone 1 1 Johan den Dunnen
00310732 Pat3 PubMed: Tarabeux 2011 - - - Canada - - - - - NDD see paper; ..., autism spectrum disorder, intellectual disability 1 1 Johan den Dunnen
00310733 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00310734 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310735 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
00310736 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., moderate intellectual disability, focal seizures, generalized seizures, signs of generalized volumes 1 1 Johan den Dunnen
00310850 11691.p1 PubMed: O'Roak 2012 - M - - - - - - - NDD see paper; ..., autism spectrum disorder/intellectual disability 1 1 Johan den Dunnen
00310851 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., moderate intellectual disability, focal seizures 1 1 Johan den Dunnen
00310852 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., mild intellectual disability, developmental regression 1 1 Johan den Dunnen
00310853 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder, focal seizures, generalised seizures, dystonic movement disorder, developmental regression 1 1 Johan den Dunnen
00310854 12547.p1 PubMed: O'Roak 2012 - M - - - - - - - NDD see paper; ..., autism spectrum disorder/intellectual disability 1 1 Johan den Dunnen
00310855 - PubMed: Platzer 2017 - F - - - - - - - NDD see paper; ..., moderate intellectual disability, focal seizures 1 1 Johan den Dunnen
00310856 - PubMed: Kenny 2014 - - - - - - - - - NDD see paper; ..., autism spectrum disorder, intellectual disability 1 1 Johan den Dunnen
00310857 12681.p1 PubMed: O'Roak 2012 - F - - - - - - - NDD see paper; ..., Mild intellectual disability, autism spectrum disorder, developmental regression 1 1 Johan den Dunnen
00310858 - PubMed: Platzer 2017 - M - - - - - - - NDD see paper; ..., severe intellectual disability, autism spectrum disorder 1 1 Johan den Dunnen
00310859 - PubMed: Platzer 2017 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability 1 1 Johan den Dunnen
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