All individuals with variants in gene TRAPPC11

56 entries on 1 page. Showing entries 1 - 56.
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00081546 - - - M no Spain - 00y05m - - - CDG2 HP:0008947 Hypotonia, HP:0000252 Microcephaly, HP: 0000278 Retrognathia, HP:0100490 Camptodactilia, HP:0001761 Pes cavus, HP:0002611 Cholestatic liver, HP: 0000112 nephropathy, HP:0000938 osteopenia, HP: 0007178 Peripheral motor neuronopathy 1 1 Leslie Matalonga
00103908 28327206-PatBH6980_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? developmental delay, intellectual disability, hypotonia, dysmorphic features, short stature, failure to thrive, skeletal anomalies, scoliosis 2 1 Johan den Dunnen
00111404 S_081 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - LGMDR18;LGMD2S Strabismus, mildly elevated CK, moderate ID, movement disorder 1 1 Bernt Popp
00119098 - - - M no United Kingdom (Great Britain) Chinese - - - - LGMDR18;LGMD2S early onset limb girdle muscular dystrophy (HP:0006785); walk-22m, muscular pseudohypertrophy (HP:0003707), proximal weakness (HP:0003701), bilateral cataracts (HP:0000519), normal cognition (no ntellectual disability, HP:0001249) 2 1 Nadine McCrea
00119122 Fam2 ASHG2012, Bogershausen, P2944 - M - United States - - - - - LGMD - 1 1 Johan den Dunnen
00119123 23830518-Fam1 PubMed: Bögershausen 2013 3-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents F yes Syria - - - - - LGMD see paper; ...; progressive muscle weakness proximal limbs, hip dysplasia, scoliosis, hypertrichosis; eye abnormalities 2 patients; no obvious cardiac or bulbar muscle involvement; CPK level 9-16x 1 3 Johan den Dunnen
00119124 23830518-Fam2 PubMed: Bögershausen 2013 2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents M yes United States Hutterite - - - - LGMD see paper; … 1 3 Johan den Dunnen
00119125 23830518-Fam2 PubMed: Bögershausen 2013 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes United States Hutterite - - - - LGMD see paper; … 1 2 Johan den Dunnen
00119126 23830518-Ind1 PubMed: Bögershausen 2013 isolated patient - - United States Hutterite - - - - LGMD see paper; … 1 1 Johan den Dunnen
00119127 23830518-Ind2 PubMed: Bögershausen 2013 isolated patient - - United States Hutterite - - - - LGMD see paper; … 1 1 Johan den Dunnen
00119128 26322222-Pat PubMed: Liang 2015, Journal: Liang 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Taiwan Han Chinese - - - - MD see paper; ..., congenital muscular dystrophy, fatty liver, infantile-onset cataract 2 1 Johan den Dunnen
00119129 27707803-Fam1 PubMed: Koehler 2017, Journal: Koehler 2017 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents (first degree cousins) F;M yes Turkey - - - - - ? see paper; ..., cerebral atrophy, global retardation, scoliosis, achalasia, alacrima 1 2 Johan den Dunnen
00119130 27707803-Fam2 PubMed: Koehler 2017, Journal: Koehler 2017 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents (first degree cousins) F;M yes Turkey - - - - - ? see paper; ..., cerebral atrophy, global retardation, scoliosis, achalasia, alacrima 1 2 Johan den Dunnen
00174791 Pat229a PubMed: Fichna 2018 - F yes Poland - - - - - LGMD CPK raised 19x; asymptomatic hyper-CKmia 1 1 Johan den Dunnen
00208755 - - - F - Germany - - - - - - HP:0003198 (Myopathy); HP:0003457 (EMG abnormality) 1 1 Andreas Laner
00228187 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252) 1 1 IMGAG
00266270 Pat Bharatendu 2019, ASHG P1254 - M - China - - - - - LGMD see abstract; ... 2 1 Johan den Dunnen
00293595 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 45 Mohammed Faruq
00293596 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293597 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 20 Mohammed Faruq
00293598 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00314485 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00314486 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00314487 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00314488 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00399393 Pat1 PubMed: Larson 2018 - F - United States - - - - - seizures see paper; ..., 6m-status epilepticus, vomiting illness 2 1 Johan den Dunnen
00438777 Fam1Pat1 PubMed: Justel 2023 family, 2 affected (2F) F - Spain Roma - - - - MD severe intellectual disability; CK level 300-600IU; muscle weakness; no movement disorder; 6m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure, generalized onset tonic seizures; no status epilepticus; epilepsy course Brodie class A; EEG normal background, ultifocal spikes, sharp, slow and spike-waves, mainly left centro-parieto-temporal; MRI brain normal 1 2 Johan den Dunnen
00438778 Fam1Pat2 PubMed: Justel 2023 relative F - Spain Roma - - - - MD severe intellectual disability; CK level 300-1100IU; muscle weakness; movement disorder; 6m-onset seizure; infection-related seizures; focal motor with impaired awareness seizure, focal non-motor with impaired awareness seizure, focal onset to bilateral tonic-clonic seizure; status epilepticus (several status with fever); epilepsy course Brodie class C; EEG normal background, focal sharp waves in right fronto-temporal; MRI brain generalized decrease in cortico-subcortical volume 1 1 Johan den Dunnen
00438779 Fam2Pat3 PubMed: Justel 2023 - M - Spain Roma - - - - MD moderate intellectual disability; CK level 500-1400IU; muscle weakness; movement disorder; 4m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure, focal onset to bilateral tonic-clonic seizure, focal motor with impaired awareness seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class C; EEG normal background, ultifocal spike-waves, mainly left parieto-temporal; MRI brain normal 1 1 Johan den Dunnen
00438780 Fam3Pat4 PubMed: Justel 2023 family, 2 affected (2M) M - Spain Roma - - - - MD moderate intellectual disability; CK level 500-800IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; no epilepsy; EEG normal background, ; MRI brain normal 1 2 Johan den Dunnen
00438781 Fam3Pat5 PubMed: Justel 2023 relative M - Spain Roma - - - - MD moderate-severe intellectual disability; CK level 300-500IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 14m-onset seizure; infection-related seizures; focal onset to bilateral tonic-clonic seizure, bilateral tonic-clonic seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class B; EEG slow background, multifocal spike-waves, mainly left parieto-occipital and right parieto-temporal; MRI brain generalized decrease in cortico-subcortical volume 1 1 Johan den Dunnen
00438782 Fam4Pat6 PubMed: Justel 2023 family, 2 affected (F, M) F - Spain Roma - - - - MD moderate-severe intellectual disability; CK level 450IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain generalized decrease in cortico-subcortical volume 1 2 Johan den Dunnen
00438783 Fam4Pat7 PubMed: Justel 2023 relative M - Spain Roma - - - - MD mild intellectual disability; muscle weakness; movement disorder; ; no epilepsy 1 1 Johan den Dunnen
00438784 Fam5Pat8 PubMed: Justel 2023 - F - Spain Roma - - - - MD moderate intellectual disability; CK level 800-3000IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 6m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class A; EEG normal background, multifocal spike-waves, mainly frontal, no photosensitivity; MRI brain generalized decrease in cortico-subcortical volume 1 1 Johan den Dunnen
00438785 Fam6Pat9 PubMed: Justel 2023 family, 2 affected (F, 2M) F - Spain Roma - - - - MD severe intellectual disability; CK level 350-750IU; muscle weakness; movement disorder; 15m-onset seizure; no infection-related seizures; bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class C; EEG normal background, multifocal discharges; MRI brain periventricular leukomalacia (history of prematurity) 1 3 Johan den Dunnen
00438786 Fam6Pat10 PubMed: Justel 2023 relative M - Spain Roma - - - - MD severe intellectual disability; CK level 3500IU; no muscle weakness; movement disorder; 7y-onset seizure; bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class B; EEG slow background, some EEG with multifocal activity, spikes in the right centrotemporal region and left centrotemporal region; MRI brain normal 1 1 Johan den Dunnen
00438787 Fam6Pat11 PubMed: Justel 2023 relative M - Spain Roma - - - - MD moderate intellectual disability; CK level 700-1000IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; ; no epilepsy; MRI brain normal 1 1 Johan den Dunnen
00438788 Fam7Pat12 PubMed: Justel 2023 - F - Spain Roma - - - - MD moderate intellectual disability; CK level 1700- 4500IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain normal 1 1 Johan den Dunnen
00438789 Fam8Pat13 PubMed: Justel 2023 - F - Spain Roma - - - - MD severe intellectual disability; CK level 820-1500IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 4m-onset seizure; infection-related seizures; generalized onset myoclonic seizure, focal motor with impaired awareness seizure; no status epilepticus; epilepsy course Brodie class C; EEG focal discharges (left centro-temporal); MRI brain generalized decrease in cortico-subcortical volume 1 1 Johan den Dunnen
00438790 Fam9Pat14 PubMed: Justel 2023 - F - Spain Roma - - - - MD moderate intellectual disability; CK level 600-5000IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; no movement disorder; ; no epilepsy; MRI brain normal 1 1 Johan den Dunnen
00438791 Fam10Pat15 PubMed: Justel 2023 family, 2 affected (2M) M - Spain Roma - - - - MD moderate intellectual disability; CK level 1950IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain bilateral parieto-occipital corticosubcortical volume decrease with prominence cerebellar folia, thin corpus callosum 1 2 Johan den Dunnen
00438792 Fam10Pat16 PubMed: Justel 2023 relative M - Spain Roma - - - - MD severe intellectual disability; CK level 2970IU; muscle weakness; movement disorder; no status epilepticus; epilepsy; EEG slow background activity 1 1 Johan den Dunnen
00438793 Fam11Pat17 PubMed: Justel 2023 - M - Spain Roma - - - - MD severe intellectual disability; CK level 1660IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 13m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus; epilepsy course Brodie class A; EEG slow background activity, epileptic abnormalities not detected; MRI brain normal 1 1 Johan den Dunnen
00438794 Fam12Pat18 PubMed: Justel 2023 - F - Spain Roma - - - - MD moderate-severe intellectual disability; CK level 260-780IU; no muscle weakness; movement disorder; 12m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus; epilepsy course Brodie class A; EEG normal background activity, epileptic abnormalities not detected; MRI brain normal 1 1 Johan den Dunnen
00438795 Fam13Pat19 PubMed: Justel 2023 - M - Spain Roma - - - - MD moderate-severe intellectual disability; CK level 370IU; no muscle weakness; movement disorder; ; no epilepsy; MRI brain normal 1 1 Johan den Dunnen
00438796 Fam14Pat20 PubMed: Justel 2023 - F - Spain Roma - - - - MD severe intellectual disability; CK level 2450IU; muscle weakness; no movement disorder; ; no epilepsy; MRI brain normal 1 1 Johan den Dunnen
00438797 Fam15Pat21 PubMed: Justel 2023 - M - Spain Roma - - - - MD CK level 1035IU; no muscle weakness; movement disorder; 14m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class A; EEG slow background activity, multifocal discharges; MRI brain generalized decrease in cortico-subcortical volume 1 1 Johan den Dunnen
00438798 Fam16Pat22 PubMed: Justel 2023 - M - Spain Roma - - - - MD intellectual disability; CK level 1200- 2400IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain megacisterna magna 1 1 Johan den Dunnen
00438799 Fam17Pat23 PubMed: Justel 2023 family, 2 affected (F, M) M - Spain Roma - - - - MD CK level 550IU; muscle weakness; no movement disorder; ; no epilepsy 1 2 Johan den Dunnen
00438800 Fam17Pat24 PubMed: Justel 2023 relative F - Spain Roma - - - - MD intellectual disability; CK level 330-1720IU; muscle weakness; no movement disorder; ; no epilepsy 1 1 Johan den Dunnen
00438801 Fam18Pat25 PubMed: Justel 2023 - F - Spain Roma - - - - MD moderate-severe intellectual disability; CK level 370IU; muscle weakness; movement disorder; 8y-onset seizure; infection-related seizures; focal motor with impaired awareness seizure, bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class A; EEG slow background activity, epileptic abnormalities not detected; MRI brain normal 1 1 Johan den Dunnen
00446904 - - - F no - - - - - - LGMDR18;LGMD2S - 2 1 Jana Zidkova
00446905 - - - M - - - - - - - LGMDR18;LGMD2S - 2 1 Jana Zidkova
00446906 - - - M - - - - - - - LGMDR18;LGMD2S - 2 1 Jana Zidkova
00454539 Pat284 PubMed: Xie 2024 patient M - China - - - - not treated MD Hepatic dysfunction; no Gowers' sign; hypertrophy gastrocnemius; limb muscle force 5; 10m walk 5 sec; elevated serum CK level (2477 U/L); no family history 1 1 Johan den Dunnen
00460257 Pat28 PubMed: Marti 2025 patient, no family history - - Spain - - - - - hCK asymptomatic, hyperCKemia; elevated CK level 1500-3000 UI/L; dystrophic features; EMG myopathic 1 1 Johan den Dunnen
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