Global Variome shared LOVD

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

Phenotype #0000272463 Individual ID 00377312 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details no cleft palate; no congenital heart defect; anteverted nares, asymmetric ears with abnormal helix; normal limbs; intellectual disability; walk-30m; normal behaviour; bitemporal depigmentation area, migraine-like headaches Inheritance Isolated (sporadic) Age/Examination 5y8m (5 years, 8 months) 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 2021-07-22 10:42:59 +02:00 (CEST) Date last edited N/A

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