Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000210175 Individual ID 00275559 Associated disease MC3DN Diagnosis/Initial mitochondrial complex III deficiency Diagnosis/Definite MD3DNx Phenotype details no intrauterine growth retardation (below P10) (HP:0001511); no low birth weight (HP:0001518); fetal bradycardia (HP:0001662); hypothermia (HP:0002045); feeding difficulties (HP:0008872); hyperventilation (HP:0002883); lactic acidosis (HP:0003128) 24 mmol/l; hypertrophic cardiomyopathy (HP:0001639); no ventricular septal defect (HP:0001629); no persistent left superior vena cava (HP:0005301); pericardial effusion (HP:0001698); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); elevated creatine kinase levels (HP:0003236) (>5,000 U/l); thrombocytopenia (HP:0001873); abnormality of blood coagulation (HP:0001928); alopecia totalis (HP:0007418); cholelithiasis (HP:0001081) Inheritance Familial, autosomal recessive Age/Examination 00y03m15d (3 months, 15 days) 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 18:21:38 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.