Phenotype #0000307832

Individual ID 00416066
Associated disease COQ10D
Phenotype details see paper; ... (esp. treatment), 2d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; no stroke like episodes; 2d-respiratory distress/insufficiency; prenatal ultrasound cerebellar hypoplasia
Diagnosis/Initial respiratory distress
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y00m02d (2 days)
Age/Diagnosis -
Age/Onset 00y00m01d
Phenotype/Onset respiratory distress
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 2022-08-22 17:54:26 +02:00 (CEST)
Date last edited N/A

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