Global Variome shared LOVD

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Phenotype #0000246131 Individual ID 00327904 Associated disease neuropathy, optic Phenotype details Seizure (HP:0001250); Postnatal growth retardation (HP:0008897); Severe global developmental delay (HP:0011344); Lactic acidosis (HP:0003128); Feeding difficulties (HP:0011968); Seizure precipitated by febrile infection (HP:0032894); Bilateral tonic-clonic seizure (HP:0002069); Developmental regression (HP:0002376) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination <16y (before 16 years) Age/Diagnosis - Age/Onset 01y-03y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-01-27 11:26:02 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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