Phenotype #0000358468

Individual ID 00473673
Associated disease leukodystrophy
Diagnosis/Initial leukodystrophy
Diagnosis/Definite -
Phenotype details Developmental delay, global; Low vision; Impaired chewing; Spasticity; lower limbs deformity; Difficult urination and Constipation. Brain MRI findings revealed mild to moderate ventriculomegaly and suggestive of Canavan disease and mitochondrial disorders as differential diagnosis
Inheritance Familial, autosomal recessive
Age/Examination 4y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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