| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| C0018418 |
BXGD001192 |
Gynecomastia |
Skin and Connective Tissue Diseases |
| C0022541 |
BXGD001550 |
Kearns-Sayre syndrome |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0023264 |
BXGD001625 |
Leigh Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0024814 |
BXGD001809 |
Marinesco-Sjogren syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0162671 |
BXGD003971 |
MELAS Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0162672 |
BXGD003972 |
MERRF Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0200633 |
BXGD004040 |
Neutrophil count (procedure) |
|
| C0200638 |
BXGD004043 |
Eosinophil count procedure |
|
| C0200641 |
BXGD004044 |
Blood basophil count (lab test) |
|
| C0221629 |
BXGD004467 |
Proximal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234518 |
BXGD004683 |
Slurred speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234979 |
BXGD004707 |
Dysdiadochokinesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0424551 |
BXGD008533 |
Impaired exercise tolerance |
|
| C0476403 |
BXGD008992 |
Electromyogram abnormal |
|
| C0543888 |
BXGD009300 |
Epileptic encephalopathy |
Nervous System Diseases |
| C0596887 |
BXGD009648 |
mathematical ability |
|
| C0598589 |
BXGD009667 |
Inherited neuropathies |
Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0857490 |
BXGD011150 |
Granulocyte count |
|
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1832342 |
BXGD013830 |
Talipes cavus equinovarus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1842364 |
BXGD014511 |
Central hypotonia |
|
| C1843920 |
BXGD014619 |
COENZYME Q10 DEFICIENCY |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1848533 |
BXGD014936 |
Ataxia with vitamin E deficiency |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1849140 |
BXGD015011 |
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1852373 |
BXGD015276 |
Mitochondrial encephalopathy |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1856689 |
BXGD015630 |
FRIEDREICH ATAXIA 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C2673700 |
BXGD017223 |
Brisk reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2677589 |
BXGD017379 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3551954 |
BXGD019149 |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4020730 |
BXGD020473 |
Increased intramyocellular lipid droplets |
|
| C4022738 |
BXGD020974 |
Neurodevelopmental delay |
|
| C4022744 |
BXGD020976 |
Focal T2 hypointense basal ganglia lesion |
|