Phenotype #0000339503

Individual ID 00450443
Associated disease SPG
Phenotype details see paper; ..., spastic cerebral quadriplegia leading to permanent and severe movement disability; instable walk, susceptible to falling; intellectual abilities within normal range, requires school with accommodation of movement disability.
Diagnosis/Initial spastic paraplegia
Inheritance Familial, autosomal recessive
Diagnosis/Definite SPG89
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2024-05-27 09:25:31 +02:00 (CEST)
Date last edited N/A

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