All individuals with variants in gene VPS13D

25 entries on 1 page. Showing entries 1 - 25.
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00029649 - PubMed: Groen 2015 4-generation famil, 5 affecteds (4F, 1M) - no Netherlands - - - - - DYT11 see paper; cervical/axial dystonia at rest, writer’s cramp, action-induced foot dystonia with walking, myoclonic jerks legs/arms, increasing with action, positive effect of alcohol on jerks, complaints of hyperventilation or panic attacks; high-frequency continuous myoclonus legs while standing, causing unsteadiness; 3/5 cases cardiac arrhythmias, attacks of painful cramps upper/lower limbs 1 5 Johan den Dunnen
00168054 0000178601 PubMed: Gauthier 2018 - M - Canada French Canadian 31y - - - spastic ataxia Gait instability, chorea, dysarthria 2 2 Inge Meijer
00168055 UM1.1 PubMed: Gauthier 2018 - M - Slovenia - 54y - - - ataxia Cerebellar ataxia, Gait and Reading difficulties, Dysarthria, LL & UL ataxia, Mild cerebellar atrophy 2 5 Inge Meijer
00168056 UM1.2 PubMed: Seong 2018 - M - Slovenia - 52y - - - ataxia Mild Cerebellar atrophy, Dysarthria, UL & LL ataxia 2 1 Inge Meijer
00168057 UM1.3 PubMed: Seong 2018 - F - Slovenia - 50y - - - ataxia Mild cerebellar atrophy, Dysarthria, UL & LL ataxia 2 1 Inge Meijer
00168058 UM1.4 PubMed: Seong 2018 - M - Slovenia - 49y - - - ataxia Mild cerebellar atrophy, Dysarthria, UL & LL ataxia 2 1 Inge Meijer
00168059 UM1.5 PubMed: Seong 2018 - M - Slovenia - 47y - - - ataxia Reading difficulty, dysarthria, UL & LL ataxia, 2 1 Inge Meijer
00168060 LUB1.1 PubMed: Seong 2018 - F - Germany - 35y - - - spastic ataxia Saccadic pursuit, UL & LL ataxia , LL spasticity, Mild executive dysfunction 2 2 Inge Meijer
00170838 LUB1.2 PubMed: Seong 2018 - F - Germany - 29y - - - spastic ataxia Gait and speech difficulties, Saccadic pursuit, UL & LL ataxia, LL spasticity, wheelchair, Normal cognitive state, Gait instability, chorea, dysarthria, Mild Intellectual Disability, Dystonia 2 1 Inge Meijer
00170840 0000178605 PubMed: Gauthier 2018 - M - Italy - 31y - - - DYT Mild Upper Limb Tremor, Lower Limb pyramidal signs 2 2 Inge Meijer
00170841 0000178606 PubMed: Gauthier 2018 - F - Italy - 29y - - - DYT Upper limb tremor, Spastic paraparesis and dystonia, gait scissoring 2 1 Inge Meijer
00170842 0000178602 PubMed: Gauthier 2018 - M - Canada French Canadian 33y - - - spastic ataxia Gait instability, Mild Intellectual Disability 2 1 Inge Meijer
00170843 0000178603 PubMed: Gauthier 2018 - F - Egypt - 09y - - - DYT Gait instability, Ataxia, muscle weakness, Mild Intellectual Disability, Motor delay 2 1 Inge Meijer
00170844 0000178604 PubMed: Gauthier 2018 - F - - European 03y - - - DYT Generalized dystonia and chorea, Global developmental delay 2 1 Inge Meijer
00170845 0000178607 PubMed: Gauthier 2018 - F - - Italian, Welsh, Irish, Yougoslavian, African American 00y22m - - - ataxia Hypotonia, Global Developmental Delay, microcephaly, ataxia 2 1 Inge Meijer
00174860 NIJ 1 PubMed: Seong E 2018 - M - Netherlands - 43y - - - spastic ataxia Delayed walking, spastic gait 2 1 Inge Meijer
00176991 NIJ 2 PubMed: Seong E 2018 - F - Indonesia Javanese 29y - - - SPG Gait difficulties, spastic paraplegia 2 1 Inge Meijer
00176992 NIJ 3 PubMed: Seong E - M - Netherlands - 37y - - - spastic ataxia Delayed walking, abnormal gait, Cervical Dystonia 2 1 Inge Meijer
00177026 NIJ 4 - - F - Netherlands - 06y - - - ataxia Developpemental delay, Mild ID, Cerebellar atrophy 2 1 Inge Meijer
00177027 WF1 PubMed: Seong E 2018 - F - - white 02y - - - ataxia Delayed gross motor skills, 2 1 Inge Meijer
00390029 16 PubMed: Ruberto 2020 - ? - Italy - - - - - retinal disease Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus 1 1 LOVD
00427988 A066 PubMed: Bournazos 2022 family, 1 affected M - Australia - - - - - ? atypical spinocerebellar ataxia 2 1 Johan den Dunnen
00443442 Fam1PatII1 PubMed: Pauly 2023 2-generation family, 1 affected, unaffected heterozygous parents F no Germany - - - - - ? see paper; ..., normal cognitive development, normal motor development; 6y-unsteady gait; 8y-pointed feet; 17y-symptoms slowly progressed, started to use wheelchair, tremor, ataxia upper extremities progressing, spreading to head, trunk, legs significantly affecting daily activities 2 1 Johan den Dunnen
00443443 Fam2PatII1 PubMed: Pauly 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives M - - - - - - - ? see paper; ..., 45y-progressing walking difficulties, resulting in inability to run, give up playing golf; stiffness, difficulty in walking/running, recurrent falls; 68y-bilateral spastic paraplegia lower limbs associated with pyramidal weakness, brisk reflexes, upward plantars, neurogenic bladder/bowel, able to mobilize independently, uses functional electrical stimulator 1 1 Johan den Dunnen
00454829 Pat3 PubMed: Dekker 2023 - F yes Netherlands - - - - - NDD see paper; ..., axial hypotonia, leg spasticity, primary microcephaly, idiopathic short stature; MRI brain hypoplastic corpus callosum, decreased white matter 1 1 Johan den Dunnen
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