All individuals with variants in gene TUBB2B

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
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VIP     
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Disease     
Phenotype details     
Variants     
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00100447 - - - F ? - - - - - - CDCBM7 cerebellar dysplasia;Cerebellar vermis hypoplasia;Agenesis of corpus callosum; Abnormality of the basal ganglia; Polymicrogyria; Schizencephaly; Abnormality of the cranial nerves;neurodevelopmental delay;Spastic tetraparesis;intellectual disability,severe;ptosis;strabismus;Complex focal seizures 1 1 Enza Maria Valente
00100448 - - - M ? - - - - - - CDCBM7 Dysgenesis of the cerebellar vermis;Hypoplasia of the pons; Partial agenesis of the corpus callosum;Abnormality of the basal ganglia, polymicrogyria;neurodevelopmental delay;Congenital microcephaly; Focal seizures;Facial dysmorphisms 1 1 Enza Maria Valente
00100449 - - - M ? - - - - - - CDCBM7 Cerebellar dysplasia;Dysgenesis of the cerebellar vermis;Hypoplasia of the pons;Dysgenesis of corpus callosum;Anomaly of the basal ganglia; Perisylvian polymicrogyria; Congenital microcephaly 1 1 Enza Maria Valente
00100450 - - - M ? - - - - - - CDCBM7 Abnormality of the pons; Dysplastic corpus callosum; Abnormality of the basal ganglia; Polymicrogyria;Schizencephaly;neurodevelopmental delay;spastic tetraparesis;intellectual disability,severe;frequent vomiting 1 1 Enza Maria Valente
00100451 - - - M ? - - - - - - CDCBM7 Cerebellar vermis hypoplasia;Hypoplasia of the pons;Agenesis of corpus callosum; Abnormality of the basal ganglia; Perisylvian polymicrogyria;Hypoplasia of the optic nerve;Neurodevelopmental delay;Generalized hypotonia;Intellectual disability,severe;Congenital microcephaly;Congenital bilateral ptosis;Strabismus; Optic atrophy;Blindness;Epilepsy;Facial dysmorphisms 1 1 Enza Maria Valente
00100452 - - - F - - - - - - - CDCBM7 Cerebellar vermis hypoplasia;Hypoplasia of the pons;Agenesis of corpus callosum;Abnormality of the basal ganglia;Simplified gyral pattern; Neurodevelopmental delay;Hypotonia;Congenital microcephaly;Optic nerve hypoplasia;Seizures;Facial dysmorphisms 1 1 Enza Maria Valente
00100453 - - - M ? - - - - - - CDCBM7 Cerebellar dysplasia;Hypoplasia of the pons;Thin corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic hemiparesis;Intellectual disability;Congenital microcephaly;Bilateral 1 1 Enza Maria Valente
00100454 - - - F ? - - - - - - CDCBM7 Cerebellar dysplasia;Hypoplasia of the pons;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic tetraparesis;Intellectual disability, severe;Congenital microcephaly;Optic nerve hypoplasia;Optic nerve atrophy;West syndrome;Thoracolumbar scoliosis 1 1 Enza Maria Valente
00100455 - - - F ? - - - - - - ? Cerebellar dysplasia;Cerebellar vermis hypoplasia; Partial agenesis of the corpus callosum;Thin corpus callosum; Abnormality of the basal ganglia;Polymicrogyria;Neurodevelopmental delay;Intellectual disability,severe;Congenital microcephaly;Nistagmus;Central visual loss;Focal seizures;Facial dysmorphisms 1 1 Enza Maria Valente
00324742 174338 - prenatal screening ? ? Spain - - - - - CDCBM (+) Abnormality of prenatal development or birth,(+) Abnormal corpus callosum morphology seen in ultrasound prenatally 1 1 Andreas Laner
00393393 188538 - - ? no Germany - - - - - CDCBM7 prenatal ultrasound abnormalities: Abnormality of the septum pellucidum, Dilation of lateral ventricles, Cerebellar hypoplasia, Abnormal cerebral morphology 1 1 Andreas Laner
00449742 - - - F - - (not applicable) white - - - - ID HP:0005684, HP:0010864, HP:0001274, HP:0000577, HP:0000646, HP:0000486, HP:0004322, HP:0000252, HP:0000238 1 1 Marketa Wayhelova
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