Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000237185 Individual ID 00312056 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details arrhythmia, peripheral arterial stenosis, abnormality helix, posteriorly rotated ears, hypertelorism, renal dysplasia, vesicoureteral reflux, depressed nasal bridge, epicanthus, malar flattening, coarse hair, generalized hirsutism, intellectual disability, sleep disturbance Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-30 12:05:07 +02:00 (CEST) Date last edited N/A

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