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 InternationalCreative Commons License
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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