| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:488650 |
| Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... |
OMIM:610717 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Mildly elevated creatine kinase, Hepatic steatosis, Impaired dista... |
OMIM:618400 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... |
OMIM:614480 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
ORPHA:266 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... |
OMIM:256030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Paresthesia, Centrally nucleated skeletal muscle ... |
OMIM:254110 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Ragged-red ... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Incre... |
OMIM:253601 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Calf muscle hypertrophy, Loss of gluteal subcutaneous adipose tissue, Reduced s... |
ORPHA:280356 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lower limb muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentratio... |
OMIM:615980 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Eleva... |
OMIM:615424 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Back pain, Achilles tendon contracture, EMG: myop... |
OMIM:300696 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Centrally nucleated skeletal musc... |
OMIM:620138 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Short stature, Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipody... |
OMIM:612526 |
| Congenital Myopathy 14 |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:618414 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Somatic sensory dysfuncti... |
OMIM:616924 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Shor... |
OMIM:619042 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Arthralgia, Hepatic steatosis, Myopathy, Lipoatrophy, Proteinuria, Microscopic he... |
ORPHA:79087 |
| Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Atrophic scars, Elevated cir... |
OMIM:616471 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Cellulitis, Abnormality of skeletal muscle fiber size, Pancreatitis, Hepatic stea... |
ORPHA:2348 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Progressive loss of facial adipose tissue, Hematuria, Membranoproliferative g... |
OMIM:608709 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Elevated urinary 3-hydroxybutyric acid, Cachexia, Elevated hepatic transam... |
ORPHA:42 |
| Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Increased level of methylsuccinic acid in urine, Myopathy, ... |
ORPHA:26792 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... |
ORPHA:370 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating creatine kinase concentration, Organic... |
OMIM:255100 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Elevated c... |
ORPHA:435660 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:399058 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300717 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Increased muscle lipid conte... |
ORPHA:171439 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Duplicated collecting system... |
OMIM:617093 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissu... |
ORPHA:363400 |
| Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria, Failure to thrive |
OMIM:612718 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Elevated hepatic transaminase, Elevated circulati... |
OMIM:612937 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Hypertriglyceridemia, Obesity, Hypercholesterolemia |
OMIM:615703 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipodystrophy, Skeletal muscle hypertrophy, Lipoatrophy, Hypertriglyceridemia |
OMIM:613877 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Mental deterioration |
OMIM:615924 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Abnormality of skeletal muscle fiber size, Pancreatitis, Hepatic steatosis, Myalgia, C... |
ORPHA:79083 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Postexertional symptom exacerbation, Short stature, Abnormality of t... |
ORPHA:369 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function, Hypercholesterolemia |
OMIM:616829 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
ORPHA:264580 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... |
OMIM:613752 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300718 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Elevat... |
OMIM:619048 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness, Hyperglycinemia |
OMIM:605899 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Elevated circulating ... |
OMIM:619386 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Short stature, Increased intramyocellular lipid d... |
OMIM:619065 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tiss... |
ORPHA:435651 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism |
ORPHA:436182 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... |
OMIM:617114 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
| Primary Hyperoxaluria |
|
Elevated urine glycolate, Gangrene, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disea... |
ORPHA:416 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Gait ataxia, Increased variability in muscle fiber diameter, Impaired distal vibration sensation,... |
OMIM:258450 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Elevated hep... |
OMIM:255120 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Chylomicron Retention Disease |
|
Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Steatorrhea, EMG: myopath... |
ORPHA:71 |
| Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atrophy |
ORPHA:238329 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Short stature, Type 1 fibers relatively smaller than type 2 fibers, Myopat... |
OMIM:300580 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:618484 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Argininosuccinic aciduria, Elevated circulating alanine aminotransferase concen... |
OMIM:603471 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Elev... |
OMIM:613157 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Chorea, Muscle fiber atrophy, Muscular dystro... |
ORPHA:369840 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... |
ORPHA:1878 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Lower limb muscle weakness, Elevated... |
OMIM:617950 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... |
OMIM:611615 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Hip pain, Fatty replacement of skeletal muscle, U... |
ORPHA:52430 |
| Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
| Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Myofibrillar myopathy, Increased variability in muscle fiber diameter, Ca... |
OMIM:603689 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Abdominal pain, Acholic stools, Biliary tract abnormality,... |
ORPHA:1414 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Decreased muscle mass, Short stature, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ... |
OMIM:619013 |
| Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Calcinosis, Stage 5 chronic kidney disease, Dysuria, Nephroca... |
ORPHA:93598 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:613327 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Episodic abdominal pain, Hepatic failure, Rhabdomyolysis, Elevated hepatic transaminase, Elevated... |
ORPHA:228305 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... |
OMIM:278000 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure... |
ORPHA:79303 |
| Congenital Generalized Lipodystrophy |
|
Cirrhosis, Adipose tissue loss, Macroglossia, Hepatic steatosis, Failure to thrive, Lipodystrophy... |
ORPHA:528 |
| Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... |
OMIM:602771 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... |
ORPHA:486815 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Hypomagnesemia |
OMIM:618314 |
| Ddost-Cdg |
|
Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Fai... |
ORPHA:300536 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Hepatic steatosis, Failure to thrive, Hepatomegaly, Elevated circulating creatin... |
OMIM:617872 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Increa... |
OMIM:151660 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Enamel hypoplasia, Short ... |
OMIM:226670 |
| Primary Lipodystrophy |
|
Cirrhosis, Pancreatitis, Hepatic steatosis, Lipodystrophy, Myalgia, Myopathy, Skeletal muscle hyp... |
ORPHA:90970 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... |
OMIM:301045 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... |
OMIM:615595 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat... |
OMIM:615381 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... |
ORPHA:401768 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis |
OMIM:615996 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Mental deterioration |
ORPHA:2382 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissue, Hepa... |
OMIM:604367 |
| Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
OMIM:619790 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Short stature, Elevated hepatic transaminase,... |
ORPHA:98907 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... |
OMIM:212140 |
| Wilson Disease |
|
Cirrhosis, Back pain, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Bone pain,... |
ORPHA:905 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Hypoesthesia, Impaired distal proprioception, Scapular winging, Gait ataxia, Increased variabilit... |
OMIM:607459 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... |
OMIM:264470 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hepatic necrosis, Elevated hepatic transaminase, Dic... |
ORPHA:71212 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Lipodystrophy, Increased intraabdominal fat, Hyperlipidemia, Hepatomegaly, Hyp... |
ORPHA:79085 |
| Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Chronic... |
ORPHA:98908 |
| Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Myopathy, Centra... |
OMIM:618992 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Somatic sensory dysfunction, Short stature, Dysdi... |
ORPHA:502423 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Hepatocellular necrosis, Exercise-induced rhabdomyolys... |
OMIM:201475 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Ataxia, Hepatic steatosis, Failure to thrive, Decreased liver function |
ORPHA:70472 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Multiple lipomas, Short stature, Dysdiadochokines... |
OMIM:617675 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Lipoatrophy, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
| Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, F... |
OMIM:604273 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Arthralgia, Hepatic steatosis, Hepatomegaly, Fatigue |
OMIM:606069 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Renal steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concent... |
OMIM:261680 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Enamel hypoplasia, Ataxia |
OMIM:617915 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Renal steatosis |
OMIM:261650 |
| Dent Disease 2 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Proximal tubulopathy,... |
OMIM:300555 |
| African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... |
ORPHA:139507 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Myopathy, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
| Rotor Syndrome |
|
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Jaundice |
ORPHA:3111 |
| Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketonuria, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Hyperlipi... |
ORPHA:2089 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Decreased liver function, Glycosuria, Hyperphosphaturia, Diffuse hepatic steatosis... |
ORPHA:436271 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal Fanconi syndrome, Truncal ataxia, Glycosuria, Hyperphosphaturia, Increased i... |
OMIM:220110 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Decreased muscle mass, Paresthesia, Weight loss, Abdominal pain, Cachexia, Elevated he... |
ORPHA:298 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Rhabdomyolysis... |
OMIM:614921 |
| Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Muscular dystrophy, Camptodactyly, Elevated hepatic t... |
ORPHA:79322 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Cholestasis, Hypercholesterolemia,... |
ORPHA:209902 |
| Lipoyltransferase 1 Deficiency |
|
Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Decreased liver function, Hyperglutami... |
OMIM:616299 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly |
OMIM:615238 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Night sweats, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic ... |
ORPHA:247585 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Renal cell carcinoma, Dorsocervical fat... |
ORPHA:189427 |
| Myoclonus, Intractable, Neonatal |
|
Chorea, Increased variability in muscle fiber diameter, Athetosis |
OMIM:617235 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
| Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Calf muscle pseudohypertrophy, Myopathy, Acute pancreatitis, Genera... |
ORPHA:79086 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... |
ORPHA:79240 |
| Optic Atrophy 11 |
|
Increased variability in muscle fiber diameter, Short stature, Ataxia, Mildly elevated creatine k... |
OMIM:617302 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Elevated hep... |
ORPHA:189439 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy, Ataxia |
OMIM:125250 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Pain insensitivity, Hepatomegaly, Elevated circulati... |
OMIM:256810 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Elevated hepatic transaminase, Dicarboxylic aciduria, EMG: myopathic abnorm... |
ORPHA:99901 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:614096 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:245400 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Lacticaciduria, Failure to thrive, Weakness of facial musculature, Foot dors... |
OMIM:618811 |
| Hyperoxaluria, Primary, Type I |
|
Gangrene, Calcium oxalate nephrolithiasis, Hematuria, Acrocyanosis, Nephrocalcinosis, Renal insuf... |
OMIM:259900 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Flexion contracture, Proximal tubulopathy, Nephrotic syndrome, Abnormal subcuta... |
OMIM:212065 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Increased circulating free fatty acid level, Large for gestat... |
ORPHA:293964 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Generalized amyotrophy, Ataxia, Organic aciduria, Limb muscle weakness, Facial palsy |
OMIM:614707 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Polycystic kidney dysplasia, Elevated hepatic transaminase, Increased intramyocel... |
ORPHA:26791 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gest... |
ORPHA:567983 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Hepatic failure, Polycystic kidney dysplasia, Cystic renal dysplasi... |
ORPHA:228308 |
| Porphyria Cutanea Tarda |
|
Porphyrinuria, Periportal fibrosis, Stage 5 chronic kidney disease, Corneal scarring, Hepatic lob... |
ORPHA:101330 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy... |
OMIM:619026 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Microvesicular hepatic st... |
OMIM:605814 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Elevated circulatin... |
OMIM:614300 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... |
OMIM:308990 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Jaundice, Polycystic kidney dysplasia, Ge... |
OMIM:231680 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Short stature, Skeletal muscle fibrosis, Achilles tendon contracture, Steatorrh... |
OMIM:616263 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hepatomegaly |
OMIM:614741 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cir... |
OMIM:615486 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Hydronephrosis, Elevated circulating alanine aminotransferase concentra... |
OMIM:608836 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Ske... |
OMIM:616867 |
| Adrenomyodystrophy |
|
Short stature, Hepatic steatosis, Failure to thrive, Myopathy, Megacystis, Abnormality of the uri... |
ORPHA:977 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Renal insufficiency, Weight loss, Recurrent urinary tract infections, Stage 5 c... |
OMIM:619487 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis, Increased urinary copper concentration |
ORPHA:209919 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... |
ORPHA:596 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
| Hemochromatosis Type 4 |
|
Cirrhosis, Abdominal pain, Arthralgia, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Agitation, Elevated circulating creatine kinase c... |
ORPHA:94093 |
| Wilson Disease |
|
Aminoaciduria, Hyperphosphaturia, Hepatocellular carcinoma, Hypoesthesia, Hepatic steatosis, Hepa... |
OMIM:277900 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Elevat... |
OMIM:614582 |
| Abetalipoproteinemia |
|
Gait ataxia, Impaired distal proprioception, Hepatic fibrosis, Cirrhosis, Elevated hepatic transa... |
ORPHA:14 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... |
OMIM:618805 |
| Mandibuloacral Dysplasia |
|
Contractures of the large joints, Increased circulating free fatty acid level, Increased adipose ... |
ORPHA:2457 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Hyperlipidemia, Intrauterine growth retardation, Obesity, Arthrog... |
ORPHA:254346 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
ORPHA:171436 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... |
OMIM:255125 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatic fibrosis, Cirrhosis, Renal cyst, Hepatomegaly, Hyperoxaluria |
OMIM:601539 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Methioninuria, Hepatic steatosis, Failure to thrive, Inguinal hernia, Homocystinuria, Pancreatitis |
OMIM:236200 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Hepatic steatosis, Renal cyst, Myopathy, Renal hypoplasi... |
OMIM:614922 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Medium chain dic... |
OMIM:201450 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Growth delay, Myoglobinuria, Fulminan... |
OMIM:231530 |
| Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Elevated circulating alan... |
OMIM:611881 |
| D-Glyceric Aciduria |
|
Chorea, Increased circulating free fatty acid level, Hyperglycinuria |
ORPHA:941 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Polydipsia |
OMIM:613677 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Short stature, Chronic active hepatitis, Elevated hepatic transamin... |
OMIM:203800 |
| Gracile Syndrome |
|
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration, Renal Fanconi syn... |
ORPHA:53693 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, 3-Methylglutaconic aciduria, Flexion contracture,... |
ORPHA:17 |
| Leigh Syndrome |
|
Chorea, Hepatic failure, 3-Methylglutaconic aciduria, Multiple joint contractures, Renal tubular ... |
ORPHA:506 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Limb hypertonia |
OMIM:615918 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Intrauterine growth retardation, Lacticaciduria |
OMIM:619003 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating creati... |
OMIM:212138 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Rhabdomyolysis, Pe... |
OMIM:124000 |
| Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated urinary 3-methylcrotonylglyc... |
OMIM:210200 |
| Dysbetalipoproteinemia |
|
Hypercholesterolemia, Renal steatosis, Tendon xanthomatosis, Obesity, Hepatic steatosis, Acute pa... |
ORPHA:412 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Increased variability in muscle fiber diameter, Impaired distal vibration sensation,... |
OMIM:157640 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Distal amyotrophy, Choreoathetosis, Limb hypertonia, Lacticaciduria |
OMIM:618247 |
| Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Ataxia, Myopathy, Hepatomegaly |
OMIM:275630 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Paresthesia, Multiple joint contractures, Short stature, Small for gestational age, Neoplasm of t... |
ORPHA:2959 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Cholestatic liver disease, Polysplenia, Macronodular... |
OMIM:619418 |
| Birk-Landau-Perez Syndrome |
|
Increased circulating creatine kinase MB isoform, Hyperkalemia |
OMIM:617595 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaci... |
OMIM:134600 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated h... |
OMIM:608594 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic... |
ORPHA:275761 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Short stature, Truncal ataxia, Elevated hepatic transaminase, Ataxia, Elevated circulatin... |
OMIM:615356 |
| Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat... |
ORPHA:2137 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Limb-girdle muscle weakness, 3-Methylglutaconic aciduria, Rhabdomyolysis, Lower limb muscle weakn... |
OMIM:251900 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Ketonuria, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypert... |
ORPHA:247598 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
| Infantile Liver Failure Syndrome 3 |
|
Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato... |
OMIM:618641 |
| Propionic Acidemia |
|
Organic aciduria, Hepatomegaly |
ORPHA:35 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of 3-hydroxy-3-methylglutaric acid in urine, Organic aciduria, Increased level of... |
OMIM:246450 |
| Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Episodic abdominal pain, Decreased body weight, Jaundice, Hepatosplenomeg... |
ORPHA:444490 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Choreoathetosis, Elevated hepatic transaminase, Hepatic steatosis, R... |
ORPHA:445038 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
3-Methylglutaconic aciduria, Flexion contracture, Rhizomelia, Choreoathetosis, Ataxia, Hepatic st... |
OMIM:616271 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Ketonuria, Increased urine alpha-ketoglutarate c... |
OMIM:619355 |
| Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Weight loss, Autophagic vacuoles, Ataxia, Elevate... |
OMIM:164310 |
| Immunodeficiency 47 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Exocrin... |
OMIM:300972 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Choreoathetosis, Pancreatitis, Organic aciduria, Failure to thrive, Nonpr... |
ORPHA:431361 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Hepatocellular adenoma, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocel... |
ORPHA:79259 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Salt craving, Hypo... |
ORPHA:95409 |
| East Syndrome |
|
Hypokalemia, Increased circulating renin level, Salt craving, Hypomagnesemia, Polydipsia |
ORPHA:199343 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Failure to thrive in infancy |
ORPHA:6 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia |
ORPHA:403 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated h... |
OMIM:269700 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
| Dilated Cardiomyopathy With Ataxia |
|
3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Diaphragmatic eventration, General... |
ORPHA:66634 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Elevated circ... |
OMIM:123320 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Cognitive impairment, Dementia, Attention deficit hyperactivity disorder, Disinhib... |
ORPHA:43 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Fa... |
OMIM:605711 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Stage 3 chronic kidney disease, Short stature, Type 2 muscle fiber predomin... |
OMIM:619743 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulati... |
OMIM:600649 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, 3-hydroxydicarboxylic aciduria, Hepatic failure, Increased intramyocellular lipid dropl... |
OMIM:252010 |
| Pearson Syndrome |
|
Hepatic failure, Abnormality of the liver, Renal insufficiency, Small for gestational age, Glycos... |
ORPHA:699 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria |
OMIM:619063 |
| Polymyositis |
|
Weight loss, Abnormal renal tubule morphology, Abnormal muscle fiber morphology, Abdominal pain, ... |
ORPHA:732 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Cirrhosis, Proximal tubulopathy, Glycosuria, Jaundice, Hyperphosphaturia... |
OMIM:229600 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Glycosuria, Elevated circulating asp... |
OMIM:617253 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Chorea, Abnormality of Krebs cycle metabolism, Hepatic failure, Abnormal renal tubul... |
ORPHA:255210 |
| Glutaric Acidemia Type 3 |
|
Failure to thrive, Glutaric aciduria, Abnormality of circulating enzyme level, Ketonuria |
ORPHA:35706 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Rigors, Diffuse hepatic steatosis,... |
ORPHA:746 |
| Multiple Carboxylase Deficiency |
|
Organic aciduria, Limb muscle weakness, Ataxia |
ORPHA:148 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Ketonuria, Large fo... |
ORPHA:79644 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... |
ORPHA:171881 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Weight loss, ... |
OMIM:619377 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria, Myalgia, Failure to thrive, Exercise intolerance,... |
OMIM:618250 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Positive Romberg sign, Impaired dist... |
ORPHA:70595 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Jaundice, 4-hydroxyphenylacetic aci... |
OMIM:617156 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Alcoholism, Hyperkalemia |
ORPHA:31826 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Hepatomegaly |
OMIM:604377 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, 3-Methylglutaconic aciduria, Jaundice, Elevate... |
OMIM:203700 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Ketonuria, Jaundice, Elevated hepatic transaminase, Ataxia, Acute pancreatitis, Hepa... |
ORPHA:20 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Small for gestational age, Exercise-induced rhabdomy... |
ORPHA:26793 |
| Arima Syndrome |
|
Renal tubular atrophy, Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal sodium ... |
OMIM:243910 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... |
OMIM:616866 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Left ventricular hypertrophy, Ataxia, Lacticaciduria, Left ventricular noncompaction, ... |
OMIM:619167 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Polydipsia |
ORPHA:231580 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Dicarboxylic ac... |
OMIM:611126 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Short stature, Ataxia, Abnormal urine alpha-ketoglutarate ... |
ORPHA:31 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... |
OMIM:612949 |
| Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
