Global Variome shared LOVD

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Phenotype #0000143462 Individual ID 00181276 Associated disease LIS3 Phenotype details Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Strabismus (HP:0000486) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 03y00m (3 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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