Phenotype #0000025915

Individual ID 00032479
Associated disease RIEG1
Phenotype details ventricular septal defect; hearing loss; mild developmental delay, maxillary hypoplasia, thin upper lip, high arched palate, low-set ears; redundant umbilical skin; Axenfeld-Rieger syndrome, congenital glaucoma, cataract, severe iris hypoplasia/aniridia; natal tooth
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination <1y (before 1 year)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Elena Semina
Database submission license No license selected
Created by Elena Semina
Date created 2012-02-19 21:35:36 +01:00 (CET)
Date last edited 2025-02-03 11:32:17 +01:00 (CET)

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