Global Variome shared LOVD

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Phenotype #0000143426 Individual ID 00181240 Associated disease LIS3 Phenotype details Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 03y09m (3 years, 9 months) 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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