Phenotype #0000321835

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00431230
Associated disease	MYOP
Diagnosis/Initial	encephalomyopathy
Diagnosis/Definite	MECREN
Phenotype details	no developmental regression; developmental delay/intellectual disability; seizures; dystonia; MRI brain bilateral abnormal high-signal intensity, atrophy putamina bilaterally; no hyperammonemia; ECG ventricular septal defect, repaired
Inheritance	Familial, autosomal recessive
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	11m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-04 16:19:44 +01:00 (CET)
Date last edited	N/A

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