Phenotype #0000326675

Individual ID 00436498
Associated disease LS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Leigh syndrome
Age/Examination 01y04m (1 year, 4 months)
Diagnosis/Definite COXPD51
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; ..., 1y4m-died of respiratory failure; low birth weight 632g (− 4.26SD), height 28cm (− 4.7SD), OFC 23.2 cm (− 2.3SD); mental retardation, optic atrophy, MRI brain abnormal bilateral signals basal ganglia/brainstem; severe bilateral hearing loss
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-09-19 15:29:17 +02:00 (CEST)
Date last edited N/A

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