Global Variome shared LOVD

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Phenotype #0000143452 Individual ID 00181266 Associated disease LIS3 Phenotype details Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilated fourth ventricle (HP:0002198); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Optic nerve hypoplasia (HP:0000609) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 01y10m (1 year, 10 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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