Phenotype #0000025876

Individual ID 00032399
Associated disease COQ10D
Phenotype details see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; intrauterine growth restriction; birth preterm ; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic ; intrauterine growth restriction, prenatal hypertrophic cardiomyopathy
Diagnosis/Initial respiratory failure
Inheritance Familial, autosomal recessive
Diagnosis/Definite 1d
Age/Examination -
Age/Diagnosis -
Age/Onset 00y00m01d
Phenotype/Onset respiratory failure
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 2015-02-20 20:14:33 +01:00 (CET)
Date last edited 2022-08-22 17:49:23 +02:00 (CEST)

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