Global Variome shared LOVD

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

Phenotype #0000017775 Individual ID 00020015 Associated disease MC4DN Phenotype details core clinical features: progressive neonatal hypertrophic, cardiomyopathy, lactic acidosis, muscular hypotonia: other features: pulomonary hypertension, persistent ductus arteriosus, dysmorphic features (small chin flat orbital bridges) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Richard Rodenburg Database submission license No license selected Created by Richard Rodenburg Date created 2014-10-01 15:23:08 +02:00 (CEST) Date last edited 2014-10-01 21:57:36 +02:00 (CEST)

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