Global Variome shared LOVD

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Phenotype #0000143496 Individual ID 00181310 Associated disease LIS3 Phenotype details Brainstem dysplasia (HP:0002508); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469); Optic nerve hypoplasia (HP:0000609) Diagnosis/Initial - Inheritance Unknown 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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