Global Variome shared LOVD

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Phenotype #0000141820 Individual ID 00176985 Associated disease EE Phenotype details Muscular hypotonia of the trunk (HP:0008936); Spastic paraparesis (HP:0002313); Horizontal pendular nystagmus (HP:0007811); Esotropia (HP:0000565); Abnormality of ocular smooth pursuit (HP:0000617) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y07m Phenotype/Onset - Protein - Owner name Anaïs Begemann Database submission license No license selected Created by Anaïs Begemann Date created 2018-08-15 14:03:54 +02:00 (CEST) Date last edited 2020-05-19 09:26:22 +02:00 (CEST)

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