Phenotype #0000321600

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00430992
Associated disease	-
Phenotype details	see paper; ..., cataract; atrophy, epiretinal membrane; ffERG severe cone-rod dystrophy; 1d-moderate sensorineural hearing loss, stable; no vestibular symptoms
Diagnosis/Initial	atypical Usher syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	40y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-01-25 15:27:06 +01:00 (CET)
Date last edited	N/A

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