All individuals with variants in gene NDUFB11

15 entries on 1 page. Showing entries 1 - 15.
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00180279 Patient 1 PubMed: Reinson 2018 - M - Estonia - - - - - MC1DN normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy, EEG-mild background activity depression; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; temporary normocytic anemia; lactic acidosis (serum lactate 2-20 mmol/l); hypertrophic cardiomyopathy 1 1 Sander Pajusalu
00180280 Patient 2 PubMed: Reinson 2018 - M - Estonia - - - - - MC1DN normal skeletal muscle; normal skin; MRI-brain mild cerebral atrophy; no epilepsy; developmental delay/intellectual disability; optic atrophy; short stature; persistent leukopenia and microcytic anemia; lactic acidosis (CSF lactate 3.1 mmol/l (normal <2.1 mmol/l)); hypertrophic cardiomyopathy; joint contractures, non-progressive mild hearing impairment 1 1 Sander Pajusalu
00229764 - PubMed: Shehata 2015 - F - - - 6m - - - MC1DN histiocytoid cardiomyopathy 1 1 Johan den Dunnen
00229765 - PubMed: van Rahden 2015 - F - - - - - - - MC1DN axial hypotonia; linear skin defect; lacrimalduct atresia; failure to thrive; no anemia; no lactic acidosis; histiocytoid cardiomyopathy; died at age 6m, autopsy revealed thyroid abnormalities (large and multiple sites of oncocytic metaplasia) 1 1 Johan den Dunnen
00229766 - PubMed: Rea 2017 - F - United Kingdom (Great Britain) - - - - - MC1DN mild to moderate bulbar palsy; normal skin; MRI-brain focal histiocytoid change in choroid plexus brain; no epilepsy; intermittent squint; no anemia; histiocytoid cardiomyopathy; focal histiocytoid change in the thyroid and lungs 1 1 Johan den Dunnen
00229767 - PubMed: Torraco 2017 - M - - - - - - - MC1DN 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 1 1 Johan den Dunnen
00229768 - PubMed: Lichtenstein 2016 - M - - - - - - - MC1DN normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; short stature; congenital sideroblastic anemia; no; no cardiac abnormality 1 1 Johan den Dunnen
00229769 - PubMed: Lichtenstein 2016 healthy carrier mother M - - - - - - - MC1DN myopathy; normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; lactic acidosis; no cardiac abnormality 1 1 Johan den Dunnen
00229770 FamPat1 PubMed: Lichtenstein 2016 2-generation family, 2 affected sibs (2M), healthy carrier mother M - - - - - - - MC1DN normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality 1 2 Johan den Dunnen
00229771 FamPat2 PubMed: Lichtenstein 2016 sib2 M - - - - - - - MC1DN normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality 1 1 Johan den Dunnen
00229772 - PubMed: Lichtenstein 2016 un-known M - - - - - - - MC1DN myopathy; normal skin; epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality; single kidney, pulmonary stenosis, congenial inguinal hernia 1 1 Johan den Dunnen
00229773 - PubMed: Shehata 2015 de novo F - - - - - - - MC1DN histiocytoid cardiomyopathy 1 1 Johan den Dunnen
00229774 - PubMed: Kohda 2016 de novo M - Japan - 3d - - - MC1DN redundant skin; intrauterine growth restriction; heart failure; died at age 55h 1 1 Johan den Dunnen
00229775 FamPat1 PubMed: van Rahden 2015 2-generation family, 2 affected (2F), healthy carrier mother F - - - - - - - MC1DN linear skin defect; MRI-brain corpus callosum agenesis, dilated lateral ventricles; epilepsy; severe global developmental delay; myopia, nystagmus, strabismus; failure to thrive; no anemia; no lactic acidosis; dilated cardiomyopathy 1 2 Johan den Dunnen
00229776 FamPat2 PubMed: van Rahden 2015 fetus (pregnancy terminated 24w) F - - - - - - - MC1DN MRI-brain corpus callosum dysgenesis, connected lateral ventricles, small cerebellum and cavum septum pellucidum; intrauterine growth restriction; thickened myocardium and pericardial effusion 1 1 Johan den Dunnen
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