Global Variome shared LOVD

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Phenotype #0000172888 Individual ID 00180279 Associated disease MC1DN Phenotype details normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy, EEG-mild background activity depression; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; temporary normocytic anemia; lactic acidosis (serum lactate 2-20 mmol/l); hypertrophic cardiomyopathy Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis - Age/Onset >00y00m01d Phenotype/Onset - Protein - Owner name Sander Pajusalu Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2019-04-09 08:04:48 +02:00 (CEST) Date last edited 2019-04-09 20:57:49 +02:00 (CEST)

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