Phenotype #0000307863

Individual ID 00416097
Associated disease COQ10D
Phenotype details see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 4m-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; cardiogenic shock; 7w-MRI brain mild cerebellar hypoplasia; thinning corpus callosum;
Diagnosis/Initial neurodevelopmental delay
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 9m
Age/Diagnosis -
Age/Onset 1d
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 19:29:13 +02:00 (CEST)
Date last edited N/A

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