Global Variome shared LOVD

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Phenotype #0000143500 Individual ID 00181314 Associated disease LIS3 Phenotype details Partial agenesis of the corpus callosum (HP:0001338); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Focal seizures (HP:0007359); Strabismus, Nystagmus (HP:0000486, HP:0000639) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 11y00m (11 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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