Phenotype #0000025913

Individual ID 00032477
Associated disease RIEG1
Phenotype details no heart defect; no hearing loss; maxillary hypoplasia, nasal bridge anomaly, low thyroid; redundant umbilical skin; Axenfeld-Rieger syndrome, glaucoma; hypodontia, microdontia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 21y (21 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 21:28:18 +01:00 (CET)
Date last edited 2025-02-03 11:32:17 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.