Phenotypes for disease #00611 (MC1DN (mitochondrial complex I deficiency, nuclear (MC1DN)), OMIM:252010)

29 entries on 1 page. Showing entries 1 - 29.
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Phenotype details     

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Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

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Individual ID     
0000050847 - - - Familial, autosomal recessive - - - - - NeuroMeGen 00063250
0000060636 m complex I deficiency (OMIM:252010) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00081067
0000085575 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00107834
0000172888 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 - - Isolated (sporadic) 03y06m - >00y00m01d - - Sander Pajusalu 00180279
0000172889 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 - - Isolated (sporadic) 15y - >00y00m01d 03y-04y - Sander Pajusalu 00180280
0000172971 histiocytoid cardiomyopathy MC1DN - Isolated (sporadic) - - - - - Johan den Dunnen 00229764
0000172972 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) MC1DN - Isolated (sporadic) 6m - 1d - - Johan den Dunnen 00229765
0000172973 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 MC1DN - Isolated (sporadic) 13m - <0d - - Johan den Dunnen 00229766
0000172974 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 MC1DN - Isolated (sporadic) 9y - <0d - - Johan den Dunnen 00229767
0000172975 normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; short stature; congenital sideroblastic anemia; no; no cardiac abnormality MC1DN - Isolated (sporadic) 2y - >0d - - Johan den Dunnen 00229768
0000172976 myopathy; normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; lactic acidosis; no cardiac abnormality MC1DN - Familial 23y - - - - Johan den Dunnen 00229769
0000172977 normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality MC1DN - Familial, X-linked recessive 20y - <0d - - Johan den Dunnen 00229770
0000172978 normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality MC1DN - Familial, X-linked recessive 16y - <0d - - Johan den Dunnen 00229771
0000172979 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 MC1DN - Unknown 8y - <0d - - Johan den Dunnen 00229772
0000172980 histiocytoid cardiomyopathy MC1DN - Isolated (sporadic) - - - - - Johan den Dunnen 00229773
0000172981 redundant skin; intrauterine growth restriction; heart failure; died at age 55h MC1DN - Isolated (sporadic) 3d - <0d - - Johan den Dunnen 00229774
0000172982 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 MC1DN - Familial, X-linked recessive 4y6m - - - - Johan den Dunnen 00229775
0000172983 MRI-brain corpus callosum dysgenesis, connected lateral ventricles, small cerebellum and cavum septum pellucidum; intrauterine growth restriction; thickened myocardium and pericardial effusion MC1DN - Familial, X-linked recessive <0d - <0d - - Johan den Dunnen 00229776
0000257296 Neuroregression following viral illness, hypotonia, normal deep tendon reflexes - - Familial, autosomal recessive - - - - - Anju Shukla 00361901
0000268949 see paper; ... mitochondrial encephalomyopathy MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373724
0000268950 see paper; ... Leigh syndrome MC1DN19 Familial, autosomal recessive - - - - - Johan den Dunnen 00373726
0000268951 see paper; ... encephalomyopathy MC1DN19 Familial, autosomal recessive - - - - - Johan den Dunnen 00373727
0000268954 see paper; ... mitochondrial complex I deficiency MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373730
0000268955 see paper; ... mitochondrial complex I deficiency MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373731
0000268956 see paper; ... mitochondrial complex I deficiency MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373732
0000268957 see paper; ... mitochondrial complex I deficiency MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373733
0000268958 see paper; ... mitochondrial complex I deficiency MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373734
0000268959 see paper; ... mitochondrial complex I deficiency MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373735
0000268960 see paper; ... complex leukoencephalopathy with thalamic involvement MC1DN21 Familial, autosomal recessive - - - - - Johan den Dunnen 00373736
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