All individuals with variants in gene CAMK2D

9 entries on 1 page. Showing entries 1 - 9.
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00448135 Pat1 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - NDD height +1.69SD; mild developmental delay/intellectual disability; delayed walking; speech delay; dysmorphic facial features; skeletal anomalies hands/feet; no dilated cardiomyopathy; abnormal muscle tone; seizures; autism spectrum disorder; no digestive problems; visual anomalies; no urogenital/kidney anomalies; MRI brain enlarged ventricles; EEG abnormal 1 1 Johan den Dunnen
00448136 Pat2 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - NDD height -1.14SD; moderate-severe developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies spine; dilated cardiomyopathy, cardiac transplantation; abnormal muscle tone; no seizures; autism spectrum disorder; digestive problems, GJ tube feeding; visual anomalies; no urogenital/kidney anomalies; MRI brain enlarged ventricles; EEG normal 1 1 Johan den Dunnen
00448137 Pat3 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - NDD height -2.86SD; severe developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies thorax; dilated cardiomyopathy, planned cardiac transplantation; abnormal muscle tone; no seizures; behavioral anomalies; digestive problems, NJ feeding; urogenital/kidney anomalies; MRI brain hemorrhagic infarcts 1 1 Johan den Dunnen
00448138 Pat4 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - NDD height -1.37SD; severe developmental delay/intellectual disability; delayed walking; speech delay, vocalizations only; dysmorphic facial features; skeletal anomalies hands, feet, thorax, palate; no dilated cardiomyopathy; abnormal muscle tone; no seizures; behavioral anomalies; digestive problems, chronic constipation; visual anomalies; no urogenital/kidney anomalies; MRI brain enlarged ventricles; EEG abnormal 1 1 Johan den Dunnen
00448139 Pat5 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - NDD height -3.28SD; profound developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies feet, thorax; severe dilated cardiomyopathy, cardiac transplantation impossible; ventricular septal defect repaired, patent ductus arteriosus; abnormal muscle tone; seizures; autism spectrum disorder; digestive problems, tube feeding, EoE, dysphagia, megacolon; visual anomalies; urogenital/kidney anomalies; MRI brain decreased brain volume 1 1 Johan den Dunnen
00448140 Pat6 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 2 affected sibs, similarly affected father M - - - - - - - NDD height -0.94SD; mild developmental delay/intellectual disability; delayed walking; speech delay, mixed receptive-expressive language disorder; dysmorphic facial features; skeletal anomalies hands; dilated cardiomyopathy, cardiac transplantation; normal muscle tone; no seizures; attention deficit/hyperactivity disorder 1 2 Johan den Dunnen
00448141 Pat7 PubMed: Rigter 2024, Journal: Rigter 2024 sib F - - - - - - - NDD height -2.1SD; severe developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies hands, feet, palate; severe dilated cardiomyopathy; partial anomalous pulmonary venous return repaired, atrial septal defect; normal muscle tone; no seizures; autism spectrum disorder; visual anomalies 1 1 Johan den Dunnen
00448142 Pat8 PubMed: Rigter 2024, Journal: Rigter 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - NDD height -1.14SD; no dysmorphic facial features; no skeletal anomalies; severe dilated cardiomyopathy; normal muscle tone; no seizures; no digestive problems; no urogenital/kidney anomalies 1 1 Johan den Dunnen
00466472 patient PubMed: Tolmacheva 2023, Journal: Tolmacheva 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Russia - - - - - ? see paper; ..., 31wg-ECG prenatal moderate dilatation of left ventricle, decreased contractility; birth 39w-Cesarean section, weight 2830g, length 49cm, OFC 35cm; 2h-critically unstable; 21d-pyloric stenosis (surgical correction); left ventricle noncompaction; frontal bossing, underfolded cleft helix, prominent superior crus of antihelix, serpiginous left antihelix stem, single transverse palmar crease right hand, dilated cardiomyopathy; central nervous system depression, decreasing periods wakefulness/response to examination; decreased general motor activity, muscle hypotension, delayed unconditional reflex activity; delayed motor development 1 1 Johan den Dunnen
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