Phenotype #0000017010

Individual ID 00018566
Associated disease OAS
Phenotype details microphthalmia, microcornea, sclerocornea, posterior embryotoxon, congenital cataract, iris coloboma, uveoretinal coloboma, early-onset retinal dystrophy, dysplastic optic discs, low-set ears, malformation of the external ear cartilage
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y04m (4 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Rachel Gillespie
Database submission license No license selected
Created by Johan den Dunnen
Date created 2014-07-24 08:46:18 +02:00 (CEST)
Date last edited N/A

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