Phenotype #0000321494

Individual ID 00430773
Associated disease neuropathy, optic
Phenotype details Nystagmus (HP:0000639); Seizure (HP:0001250); EEG with focal spikes (HP:0011193); EEG with focal slow activity (HP:0010843); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2023-01-23 20:32:21 +01:00 (CET)
Date last edited 2023-01-27 19:22:23 +01:00 (CET)

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