Global Variome shared LOVD

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Phenotype #0000143423 Individual ID 00181237 Associated disease LIS3 Phenotype details Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 02y00m (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Moritz Hebebrand Database submission license Creative Commons Attribution 4.0 International Created by Moritz Hebebrand Date created 2018-10-04 18:03:58 +02:00 (CEST) Date last edited N/A

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