Disease #03527 (CDCBM-1 (dysplasia ,cortical, complex, with other brain malformations (CDCBM-1)), OMIM:614039)

Official abbreviation CDCBM-1
Name dysplasia ,cortical, complex, with other brain malformations (CDCBM-1)
OMIM ID 614039
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene TUBB3
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Disease features -
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Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00100440 - - - F ? ? (unknown) - - 0 - - CDCBM-1 Cerebellar dysplasia;Abnormality of brainstem morphology;Hypoplasia of the pons;Dysgenesis of corpus callosum;Neurodevelopmental delay; Intellectual disability, borderline TUBB3 TUBB3 1 1 Enza Maria Valente
00100441 - - - F ? ? (unknown) - - 0 - - CDCBM-1 Cerebellar dysplasia; Aplasia/Hypoplasia of the corpus callosum;Abnormality of the basal ganglia,Neurodevelopmental delay;Hypotonia early;Cerebellar ataxia;Intellectual disability, mild;Oculomotor apraxia;Sensorineural deafness TUBB3 TUBB3 1 1 Enza Maria Valente
00100442 - - - M ? ? (unknown) - - 0 - - CDCBM-1 Cerebellar dysplasia;Cerebellar vermis hypoplasia;Abnormality of brainstem morphology;Hypoplasia of the pons; Aplasia/Hypoplasia of the corpus callosum; Abnormality of the basal ganglia;Neurodevelopmental delay; Generalized hypotonia;Intellectual disability, moderate; Strabismus; Nystagmus; Depigmented fundus TUBB3 TUBB3 1 1 Enza Maria Valente
00100443 - - - F ? ? (unknown) - - 0 - - CDCBM-1 Cerebellar dysplasia; Cerebellar vermis hypoplasia;Abnormality of the brainstem;Hypoplasia of the pons;Dysgenesis of corpus callosum; Abnormality of the basal ganglia;Neurodevelopmental delay; Generalized hypotonia;Dystonia;Intellectual disability, moderate TUBB3 TUBB3 1 1 Enza Maria Valente
00100444 - - - M ? ? (unknown) - - 0 - - CDCBM-1 Cerebellar vermis hypoplasia;Hypoplasia of the pons; Aplasia/Hypoplasia of the corpus callosum; Abnormality of the basal ganglia;neurodevelopmental delay;Axial hypotonia TUBB3 TUBB3 1 1 Enza Maria Valente
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