Global Variome shared LOVD

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

Phenotype #0000222706 Individual ID 00287159 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details global developmental delay, short stature, legal blindness, epilepsy, hypotonia, eye anomalies, absent speech, failure to thrive Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Filippo Vairo Database submission license No license selected Created by Johan den Dunnen Date created 2020-02-29 10:16:06 +01:00 (CET) Date last edited N/A

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