All individuals with variants in gene TMEM63B

17 entries on 1 page. Showing entries 1 - 17.
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00435639 Pat1 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - 9y - - - DEE see paper, ..., 9y-deceased (pneumonia); 6m-mild anaemia, mildly increased platelets count, stable on yearly full blood count; osmotic fragility test; negative; 6m-/infantile spasms; spasms, myoclonic seizures, focal seizures with impaired awareness (daily); EEG 6m–8y slow background, bilateral independent discharges, epileptic spasms and myoclonic seizures; MRI brain 5m, 4y thin corpus callosum, colpocephaly, abnormal myelination, dysmorphic lateral ventricles, enlarged extracerebral spaces, progressive mild cerebellar atrophy, and watershed areas white matter abnormality; threatened preterm labor at 35w, global profound developmental delay, generalized hypotonia, plagiocephaly, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 17m), dyskinesias; mild anemia 1 1 Johan den Dunnen
00435640 Pat2 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 1d-focal seizures; bilateral independent focal motor seizures with impaired awareness, focal to bilateral tonic-clonic (weekly); EEG 7−10y slow background, multifocal discharges, focal seizures recorded; MRI brain 6y, 10y thin corpus callosum, multifocal white matter abnormalities, ventricular asymmetry, progressive cerebellar atrophy; global profound developmental delay, ataxic gait, lower limb hypertonia, nystagmus; mild abnormalities of red blood cells, mean corpuscular hemoglobin, mean corpuscular volume 1 1 Johan den Dunnen
00435641 Pat3 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 2m-focal motor seizures with asymmetric posturing; focal seizures with impaired awareness and asymmetric posturing, focal to bilateral tonic-clonic (weekly); EEG 15y slow background, focal epileptiform discharges; MRI brain 4y thin corpus callosum, posterior predominant multifocal white matter abnormalities, dysmorphic asymmetric lateral ventricles, enlarged cortical sulci; global profound developmental delay, spastic asymmetric quadriparesis, severe cortical visual impairment 1 1 Johan den Dunnen
00435642 Pat4 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - 12y6m - - - DEE see paper, ..., 12y6m-deceased (pneumonia); 4m-focal seizures; focal seizures with impaired awareness; 9 months on: spasms and focal to bilateral tonic-clonic (daily); 14m-single episode of status epilepticus; EEG 8m–10y slow background, bilateral independent or multifocal discharges, epileptic spasms recorded; MRI brain 5m, 7y thin corpus callosum, multifocal white matter abnormalities, dysmorphic enlarged lateral ventricles, mild cortical and cerebellar atrophy, progressive trabecular bone thickening; global profound developmental delay, wheelchair bound, cortical visual impairment, by 10y knee fixed flexion contractures, dysphagia (percutaneous endoscopic gastrostomy 5y); severe macrocytic anemia transfusion dependent 1 1 Johan den Dunnen
00435643 Pat5 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 1d-jaundice; laryngomalacia (1y-supraglottoplasty) ; 2d-apnoeic seizures; 4m-epileptic spasms, 7y-focal hyperkinetic motor seizures with impaired awareness (seizure-free); EEG 7y slow background, bilateral independent or multifocal discharges, focal seizures recorded; MRI brain 1 week, 7m, 2y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive posteriorly predominant white matter abnormality, and cerebellar atrophy; global profound developmental delay, severe cortical visual impairment, nystagmus, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 2y); jaundice at birth 1 1 Johan den Dunnen
00435644 Pat6 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 10d-apnoeic seizures; focal seizures onset with impaired awareness, focal to bilateral tonic-clonic, epileptic spasms (daily); EEG 2m–23m slow background, multifocal or generalized discharges with burst suppression, focal seizures recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, diffusely abnormal myelination; global profound developmental delay, quadriparesis with generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 16m); macrocytic anemia, transfusion dependent 1 1 Johan den Dunnen
00435645 Pat7 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 12m scleralicterus; 1d-apnoeic seizures; 14d-stiffening episodes, 9m-epileptic spasms (seizure-free); EEG birth–20m normal background, then hypsarrhythmia, slow background, focal discharges; MRI brain 1 week, 5m, 11m thin corpus callosum, widespread white matter abnormalities, enlarged dysmorphic lateral ventricles, mild progressive cerebellar atrophy; global profound developmental delay, asymmetric quadriparesis, generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (no percutaneous endoscopic gastrostomy yet); scleralicterus 1 1 Johan den Dunnen
00435646 Pat8 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 2y-severe anaemia, occasional transfusions, episode of haemolysis triggered by infection8y-BM showed myelodysplastic syndrome with aplastic anaemia, haematopoiesis, chronic haemolysi; 4m-infantile spasms; 1y-generalized tonic seizures, focal motor with impaired awareness (daily); EEG 4m–12y hypsarrhythmia, then slow background, multifocal epileptiform discharges; MRI brain 4m, 2y, 10y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive widespread white matter abnormality, ventricular dilatation, cerebellar atrophy, and trabecular bone thickening; global profound developmental delay, quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe anemia requiring occasional transfusions 1 1 Johan den Dunnen
00435647 Pat9 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 2y-mild stable anaemia (no previous measurement available); retinal dystrophy; 2y6m-focal seizures; 3y-epileptic spasms in small clusters (weekly); EEG slow background, no epileptiform discharges in 4 EEG recordings; MRI brain 4m thin corpus callosum with absent splenium and delayed myelination, 6y 7m increased signal of white matter in watershed areas, generalized decrease of white matter volume; global profound developmental delay, wheelchair bound, quadriparesis, pseudobulbar signs, jerky involuntary movements, stereotypical movements and behavior, dysphagia (percutaneous endoscopic gastrostomy 3y), cortical visual impairment, nystagmus; mild anemia 1 1 Johan den Dunnen
00435648 Pat10 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 14d-focal seizures; bilateral independent focal seizures, epileptic spasms (daily); EEG 2–9m slow background, hypsarrhythmia, multifocal discharges, focal seizures and epileptic spasms recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, abnormal myelination more pronounced posteriorly, Rathke cleft cyst; global profound developmental delay, quadriparesis, generalized hypotonia, cortical blindness with roving eye movements, dysphagia; mild macrocytic anemia 1 1 Johan den Dunnen
00435649 Pat11 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 2y-focal seizures; occasional focal seizures with impaired awareness during fever; EEG 4–6y normal background, bilateral independent discharges; MRI brain 6y multifocal, posteriorly predominant white matter abnormality; global severe developmental delay, motor impairment, generalized hypotonia 1 1 Johan den Dunnen
00435650 Pat12 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 7d-myoclonic jerks; 14m-intractable focal seizures; EEG 14m: normal background, generalized and focal discharges; MRI brain 14m mild prominence of ventricular system and extra-axial CSF spaces; global developmental delay, dysphagia 1 1 Johan den Dunnen
00435651 Pat13 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ...,f rom birth severe haemolytic anaemia with macrocytosis, thrombocytopenia, hepatosplenomegaly, transfusion dependent, hyperbilirubinemia, left vesicoureteral reflux (13y-surgical correction), chronic urinary retention; 6m-infantile spasms; tonic seizures daily; generalized tonic-clonic seizures (monthly); EEG 4m–16y hypsarrhythmia, then slow background, bilateral independent or multifocal discharges, epileptic spasms and tonic seizures recorded; MRI brain 7m, 2y, 4y, 8y thin corpus callosum, multifocal white matter abnormalities, asymmetric dysmorphic lateral ventricles, progressive trabecular bone thickening; global profound developmental delay, generalized hypotonia, microcephaly, visual impairment, nystagmus, squint, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe hemolytic anemia, transfusion dependent 1 1 Johan den Dunnen
00435652 Pat14 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 10m-focal seizures; generalized tonic-clonic seizures occasional during fever; EEG 2y slow background, focal discharges; MRI brain 1 year 7m thin corpus callosum, widespread white matter abnormality, especially periventricular, asymmetric dysmorphic lateral ventricles, mild cerebellar atrophy; global profound developmental delay, spastic quadriparesis, axial hypotonia, upper limb dystonia, visual impairment, dysphagia (percutaneous endoscopic gastrostomy 3y) 1 1 Johan den Dunnen
00435653 Pat15 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 3y-focal seizures; focal seizures with impaired awareness, generalized tonic-clonic seizures (yearly; EEG 15y slow background, focal discharges, focal seizures recorded; MRI brain 15y, 21y, 24y, 27y, 28y thin corpus callosum, widespread white matter abnormality, especially periventricular/posterior, progressive cerebellar atrophy, and trabecular bone thickening; global moderate developmental delay, cerebellar ataxia, tremor, dysarthria, limited mobility, bipolar disorder; mild hyperbilirubinemia 1 1 Johan den Dunnen
00435654 Pat16 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 1d-mild jaundice, macrocytic anaemia, out-turned feet; 11m-focal seizures; focal seizures with posturing and impaired awareness, recurrent status epilepticus (yearly); EEG 17m–22y background mildly abnormal, diffuse beta activity, multifocal discharges, focal seizures recorded; MRI brain 1 year, 2y, 10y thin corpus callosum, multifocal white matter abnormality; global moderate developmental delay, spastic quadriparesis, autism spectrum disorder; macrocytic anemia 1 1 Johan den Dunnen
00435655 Pat17 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 11m-focal seizures; focal seizures with eye deviation; jerking, generalized tonic-clonic seizures, recurrent status epilepticus (seizure-free) at last FU; EEG 5–17m normal background, focal discharges; MRI brain 1 year, 12y thin corpus callosum, abnormal myelination, colpocephaly, dysmorphic lateral ventricles, increased white matter signal with posterior/periventricular predominance; global, severe developmental delay, toe walking, autism spectrum disorder 1 1 Johan den Dunnen
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