Phenotype #0000238239

Individual ID	00313915
Associated disease	-
Phenotype details	see paper; ..., ±15y-reduced night, reduced peripheral vision; rod photoreceptor atrophy, bone spicule pigmentation, cone photoreceptor dysfunction, photophobia, color vision changes, decreased central vision; ERG reduced rod responses, reduced cone responses
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	RP17
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-07 13:06:49 +02:00 (CEST)
Date last edited	2020-10-07 13:12:22 +02:00 (CEST)

Global Variome shared LOVD