Phenotype #0000245844

Individual ID 00327592
Associated disease neuropathy, optic
Phenotype details Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Increased theta frequency activity in EEG (HP:0031535); EEG with focal epileptiform discharges (HP:0011185); Intellectual disability (HP:0001249); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset 01y-05y
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2021-01-24 14:24:42 +01:00 (CET)
Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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