Phenotype #0000238812

Individual ID 00315060
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Developmental delay. Brain MRI showed enlargement of extra-axial space and delayed myelinization at 4 months.; Optic nerve coloboma-bilateral; nystagmus; esotropia-bilateral; chorioretinal degeneration; Renal hypoplasia-bilateral, echogenic kidneys-bilateral, normal VCUG
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis 6m
Age/Onset -
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2011-06-18 04:25:01 +02:00 (CEST)
Date last edited 2011-06-20 17:58:36 +02:00 (CEST)

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