Phenotype #0000337123

Individual ID 00447931
Associated disease RIEG
Phenotype details see paper; ..., elevated intraocular pressure, anterior chamber abnormalities, guttata both eyes, diffuse, patchy iris atrophy both eyes, posterior embryotoxon both eyes, corectopia left eye; optic nerve cupping consistent with glaucoma right eye; declining vision right eye greater than left; significant visual field loss related to glaucoma right eye, thinning retinal nerve fiber layer both eyes, right greater than left; significant dental anomalies, oligodontia, microdontia; as child redundant periumbilical skin surgically corrected; non-dysmorphic, normal developmental trajectory, held advanced degree; normal hearing; no congenital heart disease
Diagnosis/Initial Axenfeld-Rieger syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite RIEG1
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-01 16:37:22 +01:00 (CET)
Date last edited N/A

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