Phenotype #0000307845

Individual ID 00416079
Associated disease COQ10D
Phenotype details see paper; ... (esp. treatment), microcephaly; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; seizures; MRI brain T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination
Diagnosis/Initial neurodevelopmental delay
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 5y6m (5 years, 6 months)
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset hypotonia, infantile spasm (epilepsy)
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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