Phenotype #0000355164

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00470019
Associated disease	SPG
Phenotype details	see paper; ..., syndromic; bilateral cataract; intellectual disability/developmental delay, epilepsy
Diagnosis/Initial	bilateral cataract
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	11y6m (11 years, 6 months)
Age/Diagnosis	-
Age/Onset	7y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-25 19:19:02 +01:00 (CET)
Date last edited	N/A

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