Phenotype #0000339502

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00450442
Associated disease	SPG
Phenotype details	see paper; ..., spastic paraplegia leading to permanent and severe movement disability in lower limbs; requiring extensive physiotherapy; learning problems; IQ test intellectual age 4.5y at 5.5y, IQ79
Diagnosis/Initial	spastic paraplegia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPG89
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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