Global Variome shared LOVD

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Phenotype #0000025914 Individual ID 00032478 Associated disease RIEG1 Phenotype details no heart defect; no hearing loss; micrognathia, abnormal ocular position, inguinal hernia, ulcerative colitis, diverticulitis, attention deficit hyperactivity disorder, micropenis, sleep disorder, transient ischemic attack, hypercholesterolinemia; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, myopia (−12; −8), missing eye muscles (L), astigmatism; hypodontia, persistent primary teeth Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 54y (54 years) 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 21:33:06 +01:00 (CET) Date last edited 2025-02-03 11:32:17 +01:00 (CET)

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