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 InternationalCreative Commons License
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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