All individuals with variants in gene TRAPPC4

12 entries on 1 page. Showing entries 1 - 12.
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00306235 - - - - - Egypt - - - - - ? Neurodevelopmental disorder with epilepsy, spasticity, brain atrophy, and regression (OMIM #618741) 1 1 Marcello Scala
00307905 - - - M yes India - - - - Sodium valproate ? neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 2 Anju Shukla
00307984 - - - M yes India - - - - Sodium valproate ? neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 2 Anju Shukla
00308011 Fam1PatII1 PubMed: Van Bergen 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no - white - - - Epilim, gabapentin and clobazam ? see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, tremor, progressive scoliosis, epilepsy, cortical visual impairment, impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, abnormal dentition, hirsuitism; feeding difficulties, NG tube feeding, PEG tube feeds; premature adrenarche, temperature dysregulation, MRI progressive cortical and cerebellar atrophy with relative sparing of the basal ganglia, cortical atrophy preceded the cerebellar atrophy, no diffusion restriction has been obvious on sequential scans, no suggestion of iron deposition in the brainstem/basal ganglia, spastic quadraparesis with minimal spontaneous movement of limbs and hyperreflexia 1 2 Johan den Dunnen
00308012 Fam1PatII3 PubMed: Van Bergen 2020 brother M no - white - - - - ? see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, tremor, progressive scoliosis, epilepsy, cortical visual impairment, impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, abnormal dentition, hirsuitism; feeding difficulties, NG tube feeding, PEG tube feeds; no premature adrenarche, temperature dysregulation, MRI progressive cortical and cerebellar atrophy 1 1 Johan den Dunnen
00308013 Fam2PatII4 PubMed: Van Bergen 2020 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents M yes Turkey - 7y - - - ? see paper; ..., severe global developmental delay, spastic quadraplegia, dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, contractures in elbows, knees, anales and fingers, hip dislocation; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, PEG tube feeds, G-tube procedure, maintained borderline weight; increased deep tendon reflexes 1 3 Johan den Dunnen
00308014 Fam2PatII5 PubMed: Van Bergen 2020 sister F yes Turkey - 2y6m - - - ? see paper; ..., severe global developmental delay, spastic quadraplegia, no dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, contractures in fingers; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, G-tube procedure refused; MRI severe cerebral atrophy and relatively milder cerebellar atrophy, preservation of deep gray matter structures, increased deep tendon reflexes 1 1 Johan den Dunnen
00308015 Fam2PatII6 PubMed: Van Bergen 2020 sister F yes Turkey - - - - Baclofen, levetiracetam ? see paper; ..., severe global developmental delay, spastic quadraplegia, no dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, no visual tracking, head control, rolling over any other visual-motor function; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, G-tube procedure refused; no head control, no rolling over, no any other motor function, increased deep tendon reflexes 1 1 Johan den Dunnen
00308016 Fam3PatII1 PubMed: Van Bergen 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Canada French-Canadian 3y - - - ? see paper; ..., severe global developmental delay, spastic quadraplegia, dystonia, progressive scoliosis, >11m epilepsy, optic atrophy, 4m-nystagmus, no impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, tooth discolouration; feeding difficulties, 3m-reflux after switching to formula, progressive loss of swallowing but died before G-tube; progressive contractures, hips became nearly fixed 1 2 Johan den Dunnen
00308017 Fam3PatII2 PubMed: Van Bergen 2020 sister F no Canada French-Canadian - - - Keppra ? see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, <1y-epilepsy; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; MRI cerebral atrophy; EEG showed frontal lobe spikes, abnormal movements, spacticity, contractures 1 1 Johan den Dunnen
00314931 FamPatIII2 PubMed: Kaur 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - India - - - - - ? see paper; progressive encephalopathy and muscle involvement, ... 1 1 Johan den Dunnen
00449841 - - - F - - (not applicable) white - - - - ID HP:0001511, HP:0003202, HP:0008897, HP:0010864, HP:0000252, HP:0001257 2 1 Marketa Wayhelova
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