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 InternationalCreative Commons License
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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