Global Variome shared LOVD

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Phenotype #0000025898 Individual ID 00032462 Associated disease RIEG1 Phenotype details no heart defect; no hearing loss; maxillary hypoplasia, small mouth, high arched palate, hyperextensible joints; clinodactyly; narrow nails, lopped ears, prominent occiput; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia, microdontia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 9y (9 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 20:57:03 +01:00 (CET) Date last edited 2025-02-03 11:32:17 +01:00 (CET)

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