| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... |
OMIM:232400 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Gout, Osteoporosis, Impaired glucose tolerance, Hypertriglyc... |
OMIM:610947 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... |
ORPHA:446 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Distal muscle weakness, Pelvic girdle amyotrophy,... |
OMIM:616199 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... |
ORPHA:79230 |
| Neutral Lipid Storage Disease With Myopathy |
|
Proximal muscle weakness, Gowers sign, Hepatomegaly, Elevated circulating creatine kinase concent... |
OMIM:610717 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycem... |
ORPHA:293964 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... |
OMIM:271500 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... |
OMIM:617156 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum pyruvate, Elevated... |
OMIM:500009 |
| Nonaka Myopathy |
|
Distal muscle weakness, EMG: myopathic abnormalities, Elevated circulating creatine kinase concen... |
OMIM:605820 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Gowers sign, Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration... |
ORPHA:171706 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carni... |
OMIM:212140 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Gait disturbance, Paresthesia, Insulin resistance, Arthralgia |
ORPHA:2398 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619658 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Malaria |
|
Gait imbalance, Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyper... |
ORPHA:673 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... |
OMIM:201475 |
| Hypercholanemia, Familial, 2 |
|
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
| Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Increased muscle glycogen content, Hepatomegaly, Muscle weakness |
OMIM:261750 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, H... |
OMIM:616278 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... |
OMIM:619868 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Distal muscle weakness, Elevated circulating creatine kinase concentration, Nec... |
OMIM:182920 |
| Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor |
OMIM:615034 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Progressive cerebellar ataxia, Acute hepatic failure, Hepatosplenomegaly, Generalized limb muscle... |
ORPHA:466794 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Hypert... |
ORPHA:280356 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:619386 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Gowers sign, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased varia... |
OMIM:612937 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Fatigable weakness of neck muscles, Ataxia, Hepatomegaly, Hyperammonemi... |
ORPHA:42 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
| African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Hepato... |
ORPHA:370 |
| Gne Myopathy |
|
Lower limb amyotrophy, EMG: myopathic abnormalities, Scapular winging, Increased variability in m... |
ORPHA:602 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Hepatic failure, Gait ataxia, Hepatic fibrosis |
OMIM:616719 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... |
OMIM:618655 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... |
ORPHA:276556 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Proteinuria, Incre... |
OMIM:620010 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Progressive cerebellar ataxia, Hepatomegaly |
ORPHA:67046 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Episodic tachypnea, Hyperammonemia, Increased serum pyruvate, Elevated ... |
OMIM:615160 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia, Bilirubinuria, Porphyrin... |
ORPHA:3111 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Kyphosis, Hip contracture, Tip-toe gait, Proximal muscle weakness in lower limb... |
OMIM:615290 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Distal sensory impairment, Difficulty walking, Re... |
OMIM:617087 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Myopathy |
ORPHA:366 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myalgia, Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Truncal ataxia, Chorea, Hyperlor... |
ORPHA:369840 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Elevated circulating creatine kinase... |
ORPHA:79240 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
OMIM:607250 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia |
OMIM:614860 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia,... |
OMIM:618120 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Limb-girdle ... |
ORPHA:399058 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
| Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hypoalbu... |
ORPHA:79319 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Elevated circulating... |
OMIM:300718 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor |
ORPHA:210571 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Galactokinase Deficiency |
|
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Nuclea... |
ORPHA:79237 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
| Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
| Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Decreased plasma carnitine, Ragged... |
ORPHA:254864 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi... |
OMIM:615883 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Hepatic failur... |
OMIM:251880 |
| Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Failure to thrive |
OMIM:129850 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... |
OMIM:613027 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Elevated circulating creatine kinase ... |
OMIM:600175 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign |
OMIM:300660 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Scapuloperoneal amyotrophy, Mildly elevated creatine kinase, EMG: myopathic abnormalities, Pelvic... |
OMIM:608358 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:212138 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Fatig... |
OMIM:606069 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Ataxia, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Leth... |
OMIM:246900 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Increa... |
ORPHA:264580 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
ORPHA:94124 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Elevated circulating creatine kinase concentration, Gait disturbance, Cataract, Inc... |
OMIM:617404 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Cataract |
ORPHA:254704 |
| Dystonia 7, Torsion |
|
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... |
ORPHA:228305 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hyperbilirubinemia, Hypoglycemic seizures |
OMIM:609734 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Hypoglycemia, Decrease... |
ORPHA:2394 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Bone cyst, Hepatomegaly, Hyperinsulinemia, Increased C-peptide level, Hypertri... |
ORPHA:528 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Myopathy, Hepatic steatos... |
ORPHA:26792 |
| Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... |
OMIM:619111 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... |
ORPHA:36238 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated... |
OMIM:616828 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Chest pain, Pneumoni... |
ORPHA:454836 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Osteopenia, Conjugated hyperbi... |
OMIM:269920 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Myalgia, Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: m... |
OMIM:606612 |
| Pyruvate Carboxylase Deficiency |
|
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Hepatic failure, Sple... |
OMIM:278000 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Microvesicular hepatic steatosis, Tachypnea, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipide... |
ORPHA:156 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Cirrhosis, Hepatic fibrosis, Hypoal... |
OMIM:602579 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Decreased movement range in interphalangeal joints, Elevated circulating creatine kinase concentr... |
OMIM:609115 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin, Hepatomegaly, Renal insufficiency |
ORPHA:890 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Gowers sign, Nemaline bodies, Distal muscle weakness, EMG: my... |
ORPHA:97240 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
| Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Ins... |
ORPHA:2457 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating aspartate aminotransferase concentration, Lower limb muscle weakness, Hypogl... |
OMIM:617950 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Enlarged kidney, Elevated circulating creatinine concentration, Cataract, Cardiomeg... |
OMIM:608836 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia |
OMIM:616113 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis, Lower limb muscle weakness, Gait disturbance, Skeletal muscle atrophy |
OMIM:611225 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Neonatal hypoglycemia, Apneic episodes in... |
ORPHA:348 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Elevated circulating creatine kinase concentration, Scoliosis, Inc... |
OMIM:616471 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Myalgia, Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Elevat... |
OMIM:607155 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination |
OMIM:130950 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... |
OMIM:616860 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Distal ... |
OMIM:256810 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... |
ORPHA:454887 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... |
OMIM:261680 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Osteopenia, Acroosteolysis o... |
OMIM:248370 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Myalgia, Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Abnormality of the shoulder... |
ORPHA:206546 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypocalcemia, Hepatomegaly, Episodic tachypnea, Hypoproteinemia, Hyperammon... |
ORPHA:26793 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Decreased DLCO, Cough, Tachypnea, Restrict... |
OMIM:616414 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, Muscle... |
OMIM:615704 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Cardiomyopathy, Dilated, 1I |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia |
ORPHA:664 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
| Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
| Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Neck muscle weakness, Hepatomegaly, Muscle weakness |
ORPHA:158 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... |
OMIM:270500 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Aminoaciduria, Right ventricular hypertr... |
OMIM:613404 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... |
OMIM:201450 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia... |
ORPHA:77296 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Type I diabetes mellitus, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis |
OMIM:619858 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevated circulating aspa... |
OMIM:617049 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... |
ORPHA:247585 |
| Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice, Let... |
OMIM:616483 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Proximal muscle weakness, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dyst... |
OMIM:615980 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Failure to thrive, Atrial septal defect, Hyperbilirubinemia, Pulmonic stenosis, Hypermethioninemia |
OMIM:614300 |
| Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... |
ORPHA:64743 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... |
OMIM:208920 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
| Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... |
ORPHA:159 |
| Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation |
OMIM:618955 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Chronic kidney disease, Decreased body weight, Hepatomegaly, Hyper... |
ORPHA:1667 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Rickets |
OMIM:619232 |
| Dpm1-Cdg |
|
Ataxia, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Mus... |
ORPHA:79322 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia, Galactosuria |
OMIM:230200 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal... |
ORPHA:247598 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... |
ORPHA:521406 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture, Hyperglycemia |
OMIM:618856 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Laron Syndrome |
|
Hypoplasia of penis, Osteoarthritis, Truncal obesity, Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly, Fatigue, Abnormality of iron homeostasis, Elevated hepatic tra... |
ORPHA:75563 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... |
ORPHA:766 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Elevated carcinoembryonic antigen level, Acute infectious pneumon... |
ORPHA:264675 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Joint hypermobility, Hypercholesterolemia |
ORPHA:254531 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... |
OMIM:615630 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Lethargy |
OMIM:615026 |
| Propionic Acidemia |
|
Apnea, Pancreatitis, Hepatomegaly, Hyperammonemia, Limb hypertonia, Tachypnea, Hypoglycemia, Hype... |
OMIM:606054 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Maternally-Inherited Diabetes And Deafness |
|
Ataxia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Cataract, Proteinuri... |
ORPHA:225 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Hypoketotic hypoglycemia, Eleva... |
OMIM:609015 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:614251 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... |
ORPHA:2089 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, D... |
OMIM:251900 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Hepatomegaly, Hyperammonemia, Tachypnea, Hypoglycemia, Cough, Hyperuricemia, Body odor, H... |
ORPHA:134 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity |
ORPHA:363710 |
| Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Osteoporosis... |
OMIM:232200 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolem... |
OMIM:607765 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increased urinary porph... |
OMIM:618892 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
| Citrullinemia Type I |
|
Torticollis, Ataxia, Hepatic failure, Hyperammonemia, Tachypnea, Elevated plasma citrulline |
ORPHA:247525 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Small for gestational age, Insulin resistance, Osteoporosis, Truncal obesity, ... |
ORPHA:73272 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Dystonia |
OMIM:615010 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:613530 |
| Laurence-Moon Syndrome |
|
Ataxia, Type II diabetes mellitus, Congenital hepatic fibrosis |
ORPHA:2377 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
| Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat... |
ORPHA:101330 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia |
OMIM:128235 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... |
ORPHA:567983 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creati... |
OMIM:253601 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ataxia, Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Neonatal hypoglycemia, Muscle we... |
OMIM:619046 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased liver function, Fatigable weakness of... |
ORPHA:26791 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Abnormal serum bile... |
ORPHA:79303 |
| Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Unsteady gait |
OMIM:610090 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, C... |
OMIM:618138 |
| Acute Lung Injury |
|
Respiratory distress, Increased circulating surfactant protein level, Elevated circulating C-reac... |
ORPHA:178320 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Urinary bladder sphincter dysfunction, Ataxia, Elevated alpha-fetoprotein, Elevat... |
ORPHA:64753 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... |
ORPHA:567548 |
| Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Conjugate... |
ORPHA:53035 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Elevated hepatic transaminase, Methylmalonic acidemia, Dicarboxylic acidemia |
ORPHA:289504 |
| Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... |
ORPHA:75840 |
| Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
OMIM:620058 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Difficulty walking, Fatty repla... |
ORPHA:98908 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor |
OMIM:210000 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Abnormality of the lower urinary tract, Hiatus hernia, Hyperbilirubinemia |
ORPHA:101009 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Ataxia, Loss of ambulation, Tachypnea, Abnormal... |
OMIM:615838 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, R... |
ORPHA:79644 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hep... |
OMIM:246200 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatomegaly |
OMIM:618528 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Distal upper limb amyotrophy, Distal lower limb am... |
ORPHA:101075 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa... |
OMIM:619902 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Ataxia, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Fatigue, Tachypne... |
ORPHA:20 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Fatigue, Elevated hepatic transaminase, Type ... |
OMIM:618549 |
| Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Scapular winging, Difficulty walking, Ac... |
ORPHA:610 |
| Sandhoff Disease |
|
Kyphosis, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:796 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Osteopenia, Conjugated hyperbilirubinemia, Rickets |
OMIM:211600 |
| Hodgkin Lymphoma |
|
Ataxia, Hepatomegaly, Splenomegaly, Fatigue, Cough, Chest pain, Dyspnea, Bone pain |
ORPHA:98293 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, P... |
OMIM:617713 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination |
OMIM:213200 |
| Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia |
OMIM:606438 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoglycemia, Tachypnea, Hyperammonemia |
OMIM:615751 |
| Abetalipoproteinemia |
|
Broad-based gait, Failure to thrive, Abnormal circulating apolipoprotein concentration, Ataxia, H... |
ORPHA:14 |
| Atypical Rett Syndrome |
|
Kyphosis, Loss of ambulation, Inability to walk, Episodic tachypnea, Scoliosis, Gait disturbance,... |
ORPHA:3095 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:99901 |
| Senior-Loken Syndrome |
|
Ataxia, Congenital hepatic fibrosis |
ORPHA:3156 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
| 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 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Gait ataxia, Respiratory... |
ORPHA:363400 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Myopathy |
OMIM:618234 |
| Maple Syrup Urine Disease |
|
Ataxia, Pancreatitis, Hypoglycemia, Elevated plasma branched chain amino acids, Elevated circulat... |
OMIM:248600 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Atrial septal defect, Renal tubular acidosis, Renal tubular atrophy, Right ven... |
OMIM:208085 |
