Phenotype #0000227555

Individual ID	00300254
Associated disease	-
Phenotype details	normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 30y-optic nerve pallor, retinal vessel attenuation, bone spicule pigmentary change anterior to arcades and in nasal retina, extensive RPE, choroidal atrophy each macula; 46y-full field ERG responses undetectable to all stimulus conditions
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RP81
Age/Examination	46y (46 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-25 18:28:53 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD