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

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000078641 Cerebellar dysplasia;Abnormality of brainstem morphology;Hypoplasia of the pons;Dysgenesis of corpus callosum;Neurodevelopmental delay; Intellectual disability, borderline - - Isolated (sporadic) - - - - - Enza Maria Valente 00100440
0000078642 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 - - Isolated (sporadic) - - - - - Enza Maria Valente 00100441
0000078643 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 - - Isolated (sporadic) - - - - - Enza Maria Valente 00100442
0000078644 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 - - Isolated (sporadic) - - - - - Enza Maria Valente 00100443
0000078645 Cerebellar vermis hypoplasia;Hypoplasia of the pons; Aplasia/Hypoplasia of the corpus callosum; Abnormality of the basal ganglia;neurodevelopmental delay;Axial hypotonia - - Isolated (sporadic) - - - - - Enza Maria Valente 00100444
Legend   How to query