All individuals with variants in gene TRAPPC2L

7 entries on 1 page. Showing entries 1 - 7.
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00394126 Pat1 PubMed: Milev 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents, second-degree cousins F yes Italy - - - - - ? uneventful pregnancy; perinatal distress; illness provoked regression; 16m/39m-illness provoked regression events, multiple minor events; delayed development prior to first event, regression after first event; CK during illnesses up to 16000 (U/L), intermittent fluctuating: normal range/up to 1000; MRI 10m-delayed myelination, 16m-acute encephalopathy with posterior oedema, 18m-atrophy, 30m-increased atrophy; severe global developmental delay; 11m-sit alone, subsequently lost ability, never achieved independent walking; no speech; acquired microcephaly; tetraplegia; dystonia; epilepsy, polytherapy with anti-epileptic drugs (AEDs); cerebral visual impairment; 39m-protein-losing enteropathy9m-developmental delay; 1 1 Johan den Dunnen
00394127 Pat2 PubMed: Milev 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Austria - - - - - ? 9m-regression following infection; intrauterine dystrophy, preterm labour; perinatal distress; illness provoked regression; 9m-illness provoked regression events, later pneumonias, infections (gall bladder), but already tetraparesis; normal development prior to first event, regression after first event; CK during illnesses up to 5500 (U/L), intermittent normal range ; MRI 10m-delayed myelination; severe global developmental delay; 7m-sit alone , subsequently lost this ability, never achieved independent walking; no speech; acquired microcephaly, no further head growth after episode at 9m; tetraplegia; dystonia; epilepsy, 3-5 jerks/day, no AEDs; appears clinically to have cerebral visual impairment; recurrent vitamin B12 and folic acid-associated anaemia, cholelithiasis, recurrent pneumonia 1 1 Johan den Dunnen
00394128 FamPatII2 PubMed: Al-Deri 2021 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives F no United States Jewish-Ashkenazi - - - - ? unremarkable prenatal/perinatal development; 12m-developmental delay; no illness provoked regression; 12m-sit independently, never crawled, 2y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures 1 3 Johan den Dunnen
00394129 FamPatII3 PubMed: Al-Deri 2021 sister F no United States Jewish-Ashkenazi - - - - ? unremarkable prenatal/perinatal development; 4m-developmental delay; no illness provoked regression; very mild motor delay, 15m-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures 1 1 Johan den Dunnen
00394130 FamPatII4 PubMed: Al-Deri 2021 brother M no United States Jewish-Ashkenazi - - - - ? unremarkable prenatal/perinatal development; MRI brain 2y-normal; 6m-developmental delay; no illness provoked regression; 12m-sit, 18m-crawl, 2-3y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures 1 1 Johan den Dunnen
00438802 FamPatIV3 PubMed: Abaji 2023 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes France - - - - - NDD born at term, weight 3.450kg (45th percentile), height 47.5cm (5th), OFC 35cm (48th); 1m-hypotonia, poor contact, developmental delay;2y-6y-normal growth, not walking, no speech, stereotyped hand movements, self-injurious behaviour, mild dysmorphic features (oval face, floppy face, strabismus, prominent nose, wide mouth, everted inferior lip, hyperlaxity; severe intellectual disability, not walking, no speech; MRI brain 1–3y-non-specific anomalies, delayed myelination, thin corpus callosum; surgery for hip dysplasia due to joint hypermobility 1 2 Johan den Dunnen
00438803 FamPatIV4 PubMed: Abaji 2023 sister F - France - - - - - NDD born at term, weight 3.660kg (77th percentile), height 47cm (6th), OFC 35cm (67th); severe developmental delay; 7y-9y-first assisted steps; stereotyped hand movements, behavioural problems, normal OFC, hyperlaxity, mild dysmorphic features, non-specific MRI brain abnormalities; able to walk without support, when standing hyperlordosis noticeable, ould make vocal contact, no clear speech 1 1 Johan den Dunnen
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