Disease #02894 (CDCBM7 (dysplasia, cortical, complex, with other brain malformations, type 7 (CDCBM-7, polymicrogyria, asymmetric)), OMIM:610031)

Official abbreviation CDCBM7
Name dysplasia, cortical, complex, with other brain malformations, type 7 (CDCBM-7, polymicrogyria, asymmetric)
OMIM ID 610031
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene TUBB2B
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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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 TUBB2B TUBB2B 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 TUBB2B TUBB2B 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 TUBB2B TUBB2B 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 TUBB2B TUBB2B 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 TUBB2B TUBB2B 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 TUBB2B TUBB2B 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 TUBB2B TUBB2B 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 TUBB2B TUBB2B 1 1 Enza Maria Valente
00393393 188538 - - ? no Germany - - - - - CDCBM7 prenatal ultrasound abnormalities: Abnormality of the septum pellucidum, Dilation of lateral ventricles, Cerebellar hypoplasia, Abnormal cerebral morphology TUBB2B TUBB2B 1 1 Andreas Laner
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