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
Created by	Johan den Dunnen
Date created	2019-04-09 21:34:13 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD