Global Variome shared LOVD

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Phenotype #0000172974 Individual ID 00229767 Associated disease MC1DN Phenotype details normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy; no developmental delay/intellectual disability; normal growth; congenital sideroblastic anemia; lactic acidosis (4.2-8.2 mmol/l); fetal tachycardia and hypertrophy ventricular walls with moderate trabeculature right ventricle; dysmorphic features: hypertelorism, saddle nose, low set ears; hepatosplenomegaly and hydrocele Diagnosis/Initial MC1DN Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset <0d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-04-09 21:34:13 +02:00 (CEST) Date last edited N/A

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