Global Variome shared LOVD

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Phenotype #0000210176 Individual ID 00275560 Associated disease MC3DN Diagnosis/Initial mitochondrial complex III deficiency Diagnosis/Definite MD3DNx Phenotype details intrauterine growth retardation (<P10) (HP:0001511); low birth weight (HP:0001518); fetal bradycardia (HP:0001662); persistent fetal circulation (HP:0011726); feeding difficulties (HP:0008872); lactic acidosis (HP:0003128) 15 mmol/l; metabolic crises during febrile infections (HP:0004897); hypertrophic cardiomyopathy (HP:0001639); ventricular septal defect (HP:0001629); persistent left superior vena cava (HP:0005301); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); delayed motor development (HP:0001270); thrombocytopenia (HP:0001873); normochromic anemia (HP:0001895); bilateral papilledema (HP:0001085); alopecia totalis (HP:0007418) Inheritance Familial, autosomal recessive Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - 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 2020-01-08 18:10:00 +01:00 (CET) Date last edited 2020-01-08 18:21:59 +01:00 (CET)

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