Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000080867 Individual ID 00102726 Associated disease MD Phenotype details •Gait impairment since 1.5yrs of age. •Unable to stand up or walk unaided, in the last 2 yrs. •Brain MRI: white matter changes. •Tetraparesis grade 4+/5 in upper limbs, grade 4-/5 in lower limbs. •Mild intellectual disability. •Partial epilepsy with secondary generalization, due to CNS structural defects (MRI below), with frequent seizures, refractory to treatment. Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 01y06m Phenotype/Onset Gait impairment Protein muscle, IHC for LAMA2, normal Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-01 18:19:19 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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