All individuals with variants in gene PLA2G6

106 entries on 2 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00080812 - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - NBIA2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) 1 1 Daniel Trujillano
00080813 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - NBIA2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) 1 1 Daniel Trujillano
00080814 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - NBIA2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) 1 1 Daniel Trujillano
00080815 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - NBIA2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) 1 1 Daniel Trujillano
00080816 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - NBIA2A Infantile neuroaxonal dystrophy type 1 (OMIM:256600) 1 1 Daniel Trujillano
00080820 - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - NBIA2B Neurodegeneration with brain iron accumulation 2B (OMIM:610217) 1 1 Daniel Trujillano
00080821 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - NBIA2A Infantile neuroaxonal dystrophy 1 (OMIM:256600) 1 1 Daniel Trujillano
00102079 P8 - - M yes China - >04y - - - ID HP:0001270; HP:0001263; HP:0002061; HP:0008936; intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 1 Wenjuan Qiu
00117657 - PubMed: Wu 2009 Found in 2 affected individuals from separate families - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117658 - PubMed: Morgan 2006 Found in 4 affected individuals from separate families (Euro.J. of Neurol.2009;16:240-245) (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 4 Danielle Crompton
00117659 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117660 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117661 - PubMed: Morgan 2006 Found in 3 affected individuals from separate families (Neurol. 2008;71(18):1402-9) (Euro.J. of Neurol.2009;16:240-245) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 3 Danielle Crompton
00117662 - PubMed: Gregory 2008 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Childhood onset PLAN (atypical neuroaxonal dystrophy) 1 2 Danielle Crompton
00117663 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol. 2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117664 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol. 2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117665 - West Midlands Regional Genetics Laboratory; PubMed: Crompton 2010 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117666 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117667 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117668 - PubMed: Morgan 2006 Found in 4 affected individuals, 2 individuals from the same family (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117669 - PubMed: Morgan 2006 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117670 - PubMed: Crompton 2010 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117671 - PubMed: Gregory 2008 Found in 2 affected individuals from separate families (West Midlands regional genetic lab) - - - - - - - - INAD Childhood onset PLAN (atypical neuroaxonal dystrophy) 1 2 Danielle Crompton
00117672 - PubMed: Gregory 2008 - - - - - - - - - INAD Childhood onset PLAN (atypical neuroaxonal dystrophy) 1 1 Danielle Crompton
00117673 - PubMed: Kurian 2008 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117674 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117675 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117676 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117677 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical) 1 1 Danielle Crompton
00117678 - PubMed: Kurian 2008 Found in 2 affected individuals from separate families (West Midlands regional genetics) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117679 - PubMed: Morgan 2006 Found in 3 affected individuals from separate families (Euro.J.of Neurol.2009;16:240-245) (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 3 Danielle Crompton
00117680 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117681 - PubMed: Morgan 2006 Found in 4 affected individuals, 2 individuals from the same family (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 4 Danielle Crompton
00117682 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117683 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117684 - PubMed: Gregory 2008 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Childhood onset PLAN (atypical neuroaxonal dystrophy) 2 2 Danielle Crompton
00117685 - PubMed: Kurian 2008 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117686 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117687 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117688 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical) 1 1 Danielle Crompton
00117689 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117690 - PubMed: Morgan 2006 Found in 4 affected individuals from separate families (Neurol.2008;71(18):1402-9) (Euro.J.of Paed.neurol. 2008;12:491-500) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 4 Danielle Crompton
00117691 - PubMed: Morgan 2006 Found in 3 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 3 Danielle Crompton
00117692 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117693 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117694 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117695 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical) 1 1 Danielle Crompton
00117696 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117697 - PubMed: Morgan 2006 Found in 11 affected individuals, 4 individuals from the same family (West Midlands regional genetics) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 11 Danielle Crompton
00117698 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Childhood onset PLAN (atypical neuroaxonal dystrophy) 1 1 Danielle Crompton
00117699 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117700 - PubMed: Morgan 2006 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117701 - PubMed: Gregory 2008 - - - - - - - - - INAD Childhood onset PLAN (atypical neuroaxonal dystrophy) 2 2 Danielle Crompton
00117702 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117703 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117704 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117705 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (West Midlands regional genetics lab) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117706 - PubMed: Morgan 2006 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117707 - PubMed: Morgan 2006 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 1 Danielle Crompton
00117708 - PubMed: Sina 2009 - - - - - - - - - PARK14 Adult onset PLAN (dystonia parkinsonism) 1 1 Danielle Crompton
00117709 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 2 2 Danielle Crompton
00117710 - West Midlands Regional Genetics laboratory - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117711 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117712 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117713 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical) 1 1 Danielle Crompton
00117714 - PubMed: Wu 2009 - - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 1 Danielle Crompton
00117715 - PubMed: Morgan 2006 Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 2 Danielle Crompton
00117716 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical) 1 1 Danielle Crompton
00117717 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical) 1 1 Danielle Crompton
00117718 - PubMed: Paisan-Ruiz 2009 - - - - - - - - - PARK14 Adult onset PLAN (dystonia parkinsonism) 1 1 Danielle Crompton
00117719 - PubMed: Paisan-Ruiz 2009 - - - - - - - - - PARK14 Adult onset PLAN (dystonia parkinsonism) 1 1 Danielle Crompton
00117720 - PubMed: Morgan 2006 Found in 3 affected individuals from separate families (Neurol.2008;71(18):1402-9) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 3 Danielle Crompton
00117721 - PubMed: Gregory 2008 - - - - - - - - - INAD Childhood onset PLAN (atypical neuroaxonal dystrophy) 1 1 Danielle Crompton
00117722 - West Midlands Regional Genetics Laboratory - - - - - - - - - INAD Infantile onset PLAN (classical) 1 1 Danielle Crompton
00117723 - PubMed: Morgan 2006 Found in 11 affected individuals, 4 individuals from the same family (Neurol.2008;71(18):1402-9) (Euro.J.of Paed.Neurol.2008 12;491-500) (West Midlands regional genetics lab) - - - - - - - - INAD Infantile onset PLAN (classical infantile neuroaxonal dystrophy) 1 11 Danielle Crompton
00150155 26539891-FamBAB3743 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, epilepsy, cortical atrophy, cerebellar hypoplasia 2 2 Johan den Dunnen
00163744 - - - F - (Germany) - - - - - ? HP:0012675 (Iron accumulation in brain) 1 1 IMGAG
00174391 - - - F - (Germany) - - - - - ? HP:0001251 (Ataxia) 1 1 IMGAG
00174392 - - - M - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00285840 - - - - - China - - - - - INAD - 1 1 Fei Song
00293120 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293121 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293122 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00293123 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295414 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00302903 patient PubMed: Seibler 2018 - F - Germany - - - - - NBIA global developmental delay all motor and cognitive milestones; walk-3y, impaired comprehension, speech only single words; fine motor skills impaired, gait unstable with recurrent falls; 1y-febrile seizures with recurrent epileptic discharges in EEG recordings until 16y; 20y-mental retardation, autistic features, hand-clapping stereotypies, vertical supranuclear gaze palsy, generalized axial more than appendicular bradykinesia, generalized dystonia with involvement arms, legs and trunk, mild spasticity legs; gait slow with small steps not shuffling, walked with both feet slightly plantar-flexed and right foot also everted, when walking trunk flexed by 20degrees and slightly tilted to left 1 1 Johan den Dunnen
00306161 - - - F - - - - - - - ? Hypomimic face (HP:0000338); Abnormality of the musculature of the neck (HP:0011006); Dystonia (HP:0001332); Dysphonia (HP:0001618); Bradykinesia (HP:0002067); Abnormality of movement (HP:0100022); Pain (HP:0012531); Flexion contracture (HP:0001371) 1 1 Andreas Laner
00333485 3719 PubMed: Soens 2017 possible duplicate - - - - - - - - retinal disease see paper; ... 1 1 LOVD
00335840 - - - F no Italy - - - - - PARK14 progressive asymmetric parkinsonian syndrome, with rigidity, hypokinesia, resting and postural tremor predominantly on the right, cognitive decline, cerebellar atrophy and brain iron accumulation. 2 1 Ivano Di Meo
00361518 15DG1212 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID not syndromic; neurodegeneration, mild microcephaly, spasticity, large capillary hemangioma 1 1 Johan den Dunnen
00361668 12DG2111 PubMed: Anazi 2017 simplex case F no Saudi Arabia - - - - - ID not syndromic; Neurodegeneration 1 1 Johan den Dunnen
00374439 S-19 PubMed: Ganapathy 2019 - - - India - - - - - ? Mild delay in milestones, regression, delayed motor development, autistic behavior, dystonia, optic nerve pallor and cerebellar atrophy 1 1 Johan den Dunnen
00374440 S-3802 PubMed: Ganapathy 2019 - - - India - - - - - ? Features suggestive of INAD 1 1 Johan den Dunnen
00374441 R-0832 PubMed: Ganapathy 2019 - - - India - - - - - ? Gait abnormalities, slurred speech and dysarthria. Brain MRI showed cerebellar atrophy 2 1 Johan den Dunnen
00374442 S-4155 PubMed: Ganapathy 2019 - - - India - - - - - ? Developmental delay, motor regression, ataxia, nystagmus, cerebellar atrophy and generalised motor neuronal axonopathy 1 1 Johan den Dunnen
00374443 S-4795 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay, abnormal gait, ataxia, spasticity, toe walking, brisk reflexes, cerebellar atrophy, behavioral disturbances and mild cognitive impairment 2 1 Johan den Dunnen
00374444 S-1249 PubMed: Ganapathy 2019 - - - India - - - - - ? Fleeting depression symptoms since the last 5-6 years, tremors, stiffness, postural instability, dystonic posturing and urinary incontinence 1 1 Johan den Dunnen
00374617 S-2433 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00374808 S-2072 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
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