Phenotype #0000039132

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00052555
Associated disease	RD
Phenotype details	retinal dystrophy, severe early childhood onset; poor night vision, variable degrees of nystagmus, absence of normal pupil responses, pigmentary changes over time
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	poor vision, nystagmus, sluggish pupils
Protein	-
Owner name	Muhammad Ajmal
Database submission license	No license selected
Created by	Muhammad Ajmal
Date created	2015-10-26 17:05:36 +01:00 (CET)
Date last edited	N/A

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