Global Variome shared LOVD

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Phenotype #0000025900 Individual ID 00032464 Associated disease RIEG1 Phenotype details no heart defect; no hearing loss; GD, nasal bridge anomaly, high arched palate, prognathia, smooth philtrum, long thin face, posteriorly rotated ears, microcephaly; umbilical hernia (HP:0001537); Peters anomaly, nystagmus, esotropia; normal teeth Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 14y (14 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 21:06:15 +01:00 (CET) Date last edited 2025-02-03 11:32:17 +01:00 (CET)

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