Global Variome shared LOVD

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Phenotype #0000228585 Individual ID 00301407 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Strabismus (HP:0000486); Abnormality of the optic nerve (HP:0000587); Ataxia (HP:0001251); Global developmental delay (HP:0001263); Failure to thrive (HP:0001508); Lower limb spasticity (HP:0002061); Intention tremor (HP:0002080); Limb dystonia (HP:0002451); Increased CSF lactate (HP:0002490); Bilateral basal ganglia lesions (HP:0007146); Feeding difficulties (HP:0011968) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2020-05-15 11:34:01 +02:00 (CEST) Date last edited 2020-05-28 14:26:16 +02:00 (CEST)

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