Phenotypes for disease #05452 (MC3DN (mitochondrial complex III deficiency, nuclear (MC3DN)]))

4 entries on 1 page. Showing entries 1 - 4.
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0000130185 mitochondrial complex III deficiency MC3DN-5 see paper; ... Familial, autosomal recessive - - - - - Johan den Dunnen 00000269
0000130186 mitochondrial complex III deficiency MC3DN-5 see paper; …, neonatal lactic acidosis, hypoglycemia, severe episodes of liver failure Familial, autosomal recessive - - - - - Johan den Dunnen 00165321
0000210175 mitochondrial complex III deficiency MD3DNx 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) Familial, autosomal recessive 00y03m15d - - - - Johan den Dunnen 00275559
0000210176 mitochondrial complex III deficiency MD3DNx 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) Familial, autosomal recessive 09y - - - - Johan den Dunnen 00275560
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