Phenotype #0000340088

Individual ID 00451032
Associated disease MD
Phenotype details see paper; ..., unable to walk; significantly increased muscle tension, poor activity, joint contracture both lower limbs; X-ray dysplasia hip joints; cognitive impairment, intellectual disability; 2y-dysfunction bladder sphincter evidenced by urinary urgency and urinary incontinence symptoms
Diagnosis/Initial spastic paraplegia
Inheritance Isolated (sporadic)
Diagnosis/Definite SPG4
Age/Examination 02y (2 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 2024-05-31 09:55:59 +02:00 (CEST)
Date last edited 2024-05-31 09:59:00 +02:00 (CEST)

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