Phenotype #0000347705

Individual ID	00459978
Associated disease	peroxisomal acyl-CoA
Phenotype details	see paper; ..., deceased; 2m-psychomotor retardation, severe axial/peripheral muscular hypotonia, poor feeding; MRI brain pachygyria, perisylvian polymicrogyria, cerebral/ cerebellar white matter abnormalities; facial dysmorphism; progressive psychomotor retardation; deafness; retinopathy; peripheral neuropathy; infantile seizures
Diagnosis/Initial	peroxisomal disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	peroxisomal acyl-CoA oxidase deficiency
Age/Examination	03y06m (3 years, 6 months)
Age/Diagnosis	-
Age/Onset	00y02m
Phenotype/Onset	psychomotor retardation
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-15 11:49:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD