Global Variome shared LOVD

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

Phenotype #0000226741 Individual ID 00299431 Associated disease MN Phenotype details Neurodevelopmental disorders with craniofacial anomalies Diagnosis/Initial Toriello-Carey Inheritance Isolated (sporadic) Diagnosis/Definite MN1 C-terminal truncation syndrome Age/Examination - Age/Diagnosis 01y Age/Onset - Phenotype/Onset - Protein - Owner name Carmen Palma Database submission license No license selected Created by Carmen Palma Date created 2020-04-15 11:18:21 +02:00 (CEST) Date last edited 2020-04-16 08:29:34 +02:00 (CEST)

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