| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... |
OMIM:232400 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Hypercholest... |
OMIM:610947 |
| Neonatal Hemochromatosis |
|
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... |
ORPHA:446 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
| Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... |
OMIM:271500 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Developmental cataract, Lack of facial subcutaneous fat, Lo... |
OMIM:606721 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Myopathy, Increased muscle lipid content, Gowers sign, Proximal muscle weakness, El... |
OMIM:610717 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Gowers sign, Fasting hypoglycemia, Abnormal circulating ... |
ORPHA:171706 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Type II diabetes mellitu... |
OMIM:500002 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... |
ORPHA:369 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Cirrhosis, Cholestasis, Hepatic failure,... |
OMIM:617156 |
| Nonaka Myopathy |
|
Gait disturbance, Elevated circulating creatine kinase concentration, EMG: myopathic abnormalitie... |
OMIM:605820 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Gait disturbance, Paresthesia, Insulin resistance, Arthralgia |
ORPHA:2398 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Myopathy, Hypoglycemia, Cardiomegaly, Hyperammo... |
OMIM:212140 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset d... |
ORPHA:324575 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly, Increased muscle lipid content, Muscle fiber hypertrophy, Ragged-red muscle fibers,... |
OMIM:500009 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... |
OMIM:612526 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Hepatomegaly, Hepatocellular necrosis, Exercise-induced myalgia, Elevated cir... |
OMIM:201475 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic... |
ORPHA:276580 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... |
ORPHA:2843 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
| Malaria |
|
Acute kidney injury, Elevated circulating C-reactive protein concentration, Gait imbalance, Hyper... |
ORPHA:673 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign |
ORPHA:85292 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Dystonia, Hepatomegaly, Hypoglycemia, Progressive cerebellar ataxia |
ORPHA:67046 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... |
ORPHA:280356 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Myopathy, Spheroid Body |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... |
OMIM:182920 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Growth Hormone Insensitivity Syndrome |
|
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Failure to thrive, Truncal obesity, ... |
ORPHA:181393 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... |
OMIM:614561 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Skeletal muscle atrophy, Portal fibrosis, Hepatic fibrosis, H... |
ORPHA:370 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Pancreatitis, ... |
OMIM:619386 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic failure, Hypoal... |
OMIM:602579 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly |
ORPHA:2274 |
| African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Gowers sign, Myopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:612937 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hyperammonemia,... |
OMIM:618120 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Generalized limb muscle atrophy, Hepatic fibrosis, Progressive cerebellar ataxia, Acute hepatic f... |
ORPHA:466794 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
| Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content, Hepatomegaly, Muscle weakness, Increased hepatic glycogen content |
OMIM:261750 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Myopathy, Hypoglycemia, Skeletal muscle atrophy, Proximal mu... |
ORPHA:42 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Dystonia 27 |
|
Postural tremor, Action tremor |
OMIM:616411 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Hepat... |
ORPHA:79240 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperalaninemia, Decreased liver function, Hyperammonemia, Episodic tachypnea, Elev... |
OMIM:615160 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Rec... |
ORPHA:276556 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
| Rotor Syndrome |
|
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival ict... |
ORPHA:3111 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Proximal muscle weakness, Gait disturbance, Z-band streaming, Elevated circulating creatine kinas... |
OMIM:618655 |
| Distal Myopathy With Anterior Tibial Onset |
|
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Tibia... |
ORPHA:178400 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Myopathy, Abnormal circulating creatine kinase concentration, Chorea, Myalgia, Hepa... |
ORPHA:369840 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Hepatic failure, Gait ataxia |
OMIM:616719 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Distal sensory impairment, Foot dorsi... |
OMIM:617087 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
OMIM:607250 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Progressive distal muscle weakness, Autophagi... |
ORPHA:399058 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
| Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... |
ORPHA:139491 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Dystonia, Hypoglycemia, Decreased liver function, Ataxia, Elevated hepatic transami... |
OMIM:246900 |
| Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypoalbu... |
ORPHA:79319 |
| Galactokinase Deficiency |
|
Hepatomegaly, Nuclear cataract, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failu... |
ORPHA:79237 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:255120 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Left ventricular hy... |
OMIM:619048 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
| Myopathy, Distal, 4 |
|
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Mildly... |
OMIM:614065 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:300718 |
| Myopathy, Tubular Aggregate, 2 |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Falls, Generalized ... |
OMIM:615883 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Ascites, Depletion of mitochondrial DNA in l... |
OMIM:251880 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Elevated circulating creatine kinase concentrat... |
OMIM:600175 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Skeletal mus... |
ORPHA:264580 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Myopathy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepat... |
ORPHA:26792 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, M... |
ORPHA:254864 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Staphylococcal Necrotizing Pneumonia |
|
Lethargy, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory dist... |
ORPHA:36238 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Cataract |
ORPHA:254704 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Elevated circulating creatine k... |
OMIM:254110 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Myopathy, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circu... |
ORPHA:228305 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
ORPHA:94124 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... |
OMIM:212138 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Increased adipose tissue, Gait disturbance, Elevated circulating creatine kinase concentration, T... |
OMIM:617404 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Dystonia, Hypoglycemia |
OMIM:616113 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased serum pyruvate |
OMIM:614741 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Joint hypermobi... |
OMIM:616222 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity |
ORPHA:401835 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Bone cyst, Insulin resistance, Failure to thrive, Lipo... |
ORPHA:528 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Hyperammonemia, Ataxia, Elevated plasma branched ... |
ORPHA:2394 |
| Coach Syndrome 2 |
|
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... |
OMIM:619111 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proximal muscle weakness, Elevated circulating creat... |
OMIM:615895 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
| Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Truncal ataxia, Tremor |
OMIM:616127 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Failure to thrive, Cardiomegaly, Splenomegaly, Osteopenia, Conj... |
OMIM:269920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Vertebral fusion, Elevated circulating creatine kinase concentration, Macrog... |
OMIM:606612 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:600116 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Proximal muscle weakness, Insulin resistance, Abnormal circulating lipid concentration, Elevated ... |
OMIM:615980 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased serum pyruvate, Hyperalaninemia |
OMIM:266150 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated hepatic transaminase, Increased LDL cholesterol c... |
OMIM:616828 |
| Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Tachypnea, Increased hepatocellula... |
OMIM:220111 |
| Zebra Body Myopathy |
|
Gowers sign, Proximal muscle weakness, Elevated circulating creatine kinase concentration, Autoph... |
ORPHA:97240 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Decreased movement range in interphalangeal j... |
OMIM:609115 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... |
OMIM:278000 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Hypoglycemia, Elevated hepatic transami... |
OMIM:256810 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hy... |
ORPHA:35878 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Skeletal muscle atrophy, Hepatic failure, Elevated hepatic transamina... |
ORPHA:156 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:613673 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased total bilirubin, Increased body weight |
ORPHA:890 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Generalized muscle... |
ORPHA:276608 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Avian Influenza |
|
Hepatitis, Fatigue, Respiratory failure, Elevated circulating C-reactive protein concentration, A... |
ORPHA:454836 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:607317 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Tremor |
OMIM:617917 |
| Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Pneumonia, Elevated circulatin... |
ORPHA:26793 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Restrictive ventilatory defect, Pelvic girdle muscle weakness, Vertebral fusion, Elevated circula... |
OMIM:607155 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Incre... |
OMIM:616860 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness |
OMIM:611225 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Decreased plasma free carnitine, Hydr... |
OMIM:608836 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Apneic episodes in infancy, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilir... |
ORPHA:348 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Absent muscle dystrophin expression, Abnormal... |
ORPHA:206546 |
| Bethlem Myopathy 2 |
|
Myopathy, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contracture, Incr... |
OMIM:616471 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea, Cough, Arthralgia, Decreased DLCO, Restrictive ventilatory defect, Dyspnea, Elevated c... |
OMIM:616414 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Neonatal hyperbilirubinemia, Failure to thrive, Insulin ... |
ORPHA:73272 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Skeletal muscle atrophy, Muscle... |
OMIM:615704 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, Elevated circulating creatine kinase... |
OMIM:608358 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
| Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... |
OMIM:613759 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
| Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism |
ORPHA:210571 |
| Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Neck muscle weakness, Muscle weakness |
ORPHA:158 |
| Propionic Acidemia |
|
Hepatomegaly, Dystonia, Hypoglycemia, Limb hypertonia, Tachypnea, Apnea, Pancreatitis, Hyperglyci... |
OMIM:606054 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Atrial septal defect, Hypermethioninemia |
OMIM:614300 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Diabetes melli... |
ORPHA:77296 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... |
OMIM:201450 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
| Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:613070 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Ascites, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Elevated circulating ... |
ORPHA:565899 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Dystonia, Methylmalonic acidemia, Hypoglycemia, Elevated hepatic transaminase |
ORPHA:289504 |
| Dystonia 24 |
|
Torticollis, Head tremor, Blepharospasm |
OMIM:615034 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... |
OMIM:261680 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Ventricular se... |
OMIM:616730 |
| Galactosemia Ii |
|
Galactosuria, Hypergalactosemia, Cataract |
OMIM:230200 |
| Citrullinemia Type I |
|
Torticollis, Tachypnea, Hyperammonemia, Ataxia, Hepatic failure, Elevated plasma citrulline, Leth... |
ORPHA:247525 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hypoglycemia, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase, Jau... |
OMIM:616483 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... |
ORPHA:766 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Elevated creatine kinase after exer... |
ORPHA:159 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinemia, Hyperammonemia, At... |
ORPHA:1667 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Fatigue, Elevated hepatic tra... |
ORPHA:75563 |
| Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis |
OMIM:618955 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Tachypnea, Cough, Elevated carcinoembryonic antigen level, Respiratory distr... |
ORPHA:264675 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... |
OMIM:615630 |
| Laron Syndrome |
|
Hypoglycemia, Hypoplasia of penis, Truncal obesity, Hypercholesterolemia, Osteoarthritis |
ORPHA:633 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Abnormal circulating lipid concentration,... |
ORPHA:225 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Joint hypermobility, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Knee flexion ... |
ORPHA:79322 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618892 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Myopathy, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Generaliz... |
OMIM:609015 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Tachypnea, Hyperalaninemia, Hyperammonemia, Lethargy |
OMIM:615751 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Right ven... |
OMIM:613404 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Body odor, Hyperglycemia, Tachypnea, Cough, Hyperammonemia, Hyperuric... |
ORPHA:134 |
| Spinocerebellar Ataxia 40 |
|
Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Intention tremor |
OMIM:616053 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminase, Postprandial hyp... |
ORPHA:2089 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Macroglossia, Muscle weakness, ... |
OMIM:251900 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonatal hyperbilir... |
ORPHA:95717 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Rickets, Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:607765 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Dystonia, Hypoglycemia, Hyperalaninemia |
OMIM:614702 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
| Tyrosinemia, Type I |
|
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hypoglycemia, Elevated urinary... |
OMIM:276700 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Porphyria Cutanea Tarda |
|
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... |
ORPHA:101330 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdle mus... |
OMIM:613530 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
| Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus |
ORPHA:2377 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
| Galactosemia Iv |
|
Hypergalactosemia, Cataract |
OMIM:618881 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Abnormal renal physiology, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin conce... |
ORPHA:158057 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Myopathy, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperactivity, Ataxia, ... |
ORPHA:363400 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... |
OMIM:232200 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia |
OMIM:208920 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Torticollis... |
ORPHA:75840 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Proximal muscle weakness, Poor head control, Hypoglycemia, Skeletal muscle atrophy,... |
ORPHA:26791 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... |
OMIM:618641 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Unconjugated hyperbilirubinemia, Steppage gait, Bradykinesia, Hypermangan... |
OMIM:613280 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Abnormal serum bile acid concentration, Rickets, Failure to thrive, Renal cyst, Hyp... |
ORPHA:79303 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Elevated circulating creatine kinase concentration, Inte... |
OMIM:618138 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Macroglossia, Ataxia, Cholestasis |
OMIM:266920 |
| Acute Lung Injury |
|
Hypoxemia, Increased circulating surfactant protein level, Pneumonia, Tachypnea, Respiratory dist... |
ORPHA:178320 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Hyperprolinemia, Neonatal hypoglycemia, Splenomegaly, Muscle weakness, Ataxia, I... |
OMIM:619046 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Right ven... |
OMIM:208085 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypoglycemia |
OMIM:610090 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm |
ORPHA:420485 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Double outle... |
OMIM:614886 |
| Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelithiasis, Splenom... |
ORPHA:53035 |
| Spinocerebellar Ataxia 12 |
|
Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins... |
OMIM:604326 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnormal circulating a... |
ORPHA:71212 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Hepatomegaly, Lipid accumulation in hepatocytes, Tachypnea, Apnea, Hyperammonemia, Recu... |
ORPHA:20 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... |
ORPHA:567548 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Tremor |
OMIM:224500 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Skeletal muscle atrophy, Hepatic fibrosis, Hyperglycemia, Pancreatic islet-... |
OMIM:246200 |
| Atypical Rett Syndrome |
|
Dystonia, Gait disturbance, Sudden episodic apnea, Abnormal pattern of respiration, Impaired pain... |
ORPHA:3095 |
| Neutral Lipid Storage Myopathy |
|
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Increased intramyocellular lipid ... |
ORPHA:98908 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... |
OMIM:232220 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Hiatus hernia, Hyperbilirubinemia, Abnormality of the lower urinary tract |
ORPHA:101009 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:605909 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Gait imbalance, Urinary bladder sphincter dysfunction, Elevated circulating creatine ki... |
ORPHA:64753 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Fatigue, Type I diabetes mellitus, Hepatic failure, Elevated h... |
OMIM:618549 |
| Lipoyltransferase 1 Deficiency |
|
Dystonia, Increased total bilirubin |
OMIM:616299 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin |
OMIM:618528 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Action tremor |
ORPHA:464440 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholestero... |
ORPHA:14 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
| Multiple Carboxylase Deficiency |
|
Limb muscle weakness, Tachypnea, Hyperammonemia, Ataxia, Respiratory distress, Lethargy |
ORPHA:148 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Distal lower l... |
ORPHA:101075 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Rickets, Failure to thrive, Osteopenia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
| Hodgkin Lymphoma |
|
Hepatomegaly, Cough, Splenomegaly, Ataxia, Fatigue, Dyspnea, Bone pain, Chest pain |
ORPHA:98293 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Progressive external ophthalmoplegia, Elevated circulating creatine kinas... |
OMIM:617713 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Osteopetrosis, Hyperbilirubinemia, Stillbirth, Splenomegaly, Absence of renal corti... |
OMIM:259720 |
| Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal ataxia |
OMIM:130950 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Elevated circulating creatinine concentration, My... |
ORPHA:79126 |
| Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98853 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
| Sandhoff Disease |
|
Hepatomegaly, Ataxia, Kyphosis, Splenomegaly |
ORPHA:796 |
| Corticobasal Syndrome |
|
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... |
ORPHA:454887 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Myopathy, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
OMIM:617013 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... |
OMIM:267700 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... |
ORPHA:610 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Lethargy |
OMIM:210200 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities, Generalized muscle weakness, Elevated creatine kinase aft... |
ORPHA:99901 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elevated circulating creatine kinase concentration, EMG: myopathic abn... |
OMIM:619040 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Skeletal myopathy, Progressive distal muscle weakness, Generalized musc... |
ORPHA:746 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Dystonia, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, ... |
ORPHA:3008 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
| Bachmann-Bupp Syndrome |
|
Attention deficit hyperactivity disorder, Hypoglycemia, Hyperbilirubinemia, Large for gestational... |
OMIM:619075 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepat... |
ORPHA:541423 |
