Phenotype #0000358363

Individual ID 00473568
Associated disease paraplegia
Diagnosis/Initial hereditary paraplegia
Diagnosis/Definite -
Phenotype details onset 1y, Developmental regression; Mental retardation, mod; Low set ears; Large mouth; Increased DTR and Tone; Spastic Paraplegia; Congenital hip dislocation; Spasticity; Exercise-induced dystonia; Brain MRI: subtle delayed myelination process.
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 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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