Global Variome shared LOVD

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Phenotype #0000246665 Individual ID 00328440 Associated disease neuropathy, optic Phenotype details Uncontrolled eye movements (HP:0007738); Decreased fetal movement (HP:0001558); Feeding difficulties (HP:0011968); Stridor (HP:0010307); Failure to thrive (HP:0001508); Lactic acidosis (HP:0003128); Hyperalaninemia (HP:0003348); Abnormal basal ganglia MRI signal intensity (HP:0012751); EEG with centrotemporal focal spike waves (HP:0012557) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination <01y (before 1 year) Age/Diagnosis - Age/Onset 00y00m07d 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 16:30:40 +01:00 (CET) Date last edited 2021-01-27 19:09:02 +01:00 (CET)

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