Phenotype #0000021988

Individual ID	00025918
Associated disease	CHIME;GPIBD5
Phenotype details	Clinical features included bilateral retinal colobomas, subaortic stenosis, and hydronephrosis. Facial dysmorphic features were frontal bossing, a broad nasal root, a flat midface with an elongated philtrum, and slightly lowset, posteriorly angulated ears. He showed delayed psychomotor skills including speech and had conductive hearing loss and a seizure disorder. At 10 years, his skin showed mild erythema, with lamellated, ichthyosiform changes.
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2014-12-04 23:04:19 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD