Phenotype #0000319219

Individual ID	00428315
Associated disease	-
Phenotype details	uncomplicated pregnancy; born at term, normal weight, not following moving light stimuli; 31y-no light sensation, enophthalmos, severe ocular shrinkage, horizontal distribution central corneal porcelain white plaque, growth of neovascularizations and other intraocular structures not observed; psychomotor development, normal, auditive evaluation normal
Diagnosis/Initial	congenital blindness
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ND
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-31 11:16:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD