Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Seizure, Cerebral atrophy, Abnormal pyramidal sign, Hypert... |
ORPHA:363400 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:605055 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Axonal degeneration, Peripheral axonal degeneration, Dementia, Choreoathetosis, Distal sensory im... |
OMIM:208920 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Dystonia, Neuronal loss in central nervous system, Myoclonus, Seizure, Ataxia, Trem... |
OMIM:615924 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration, Paraparesis... |
OMIM:302800 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polypha... |
ORPHA:324575 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Gowers sign, Proximal muscle weakness, Increased muscle lipid content, Myopathy, El... |
OMIM:610717 |
Huntington Disease |
|
Clumsiness, Gait imbalance, Decreased body mass index, Choking episodes, Generalized muscle weakn... |
ORPHA:399 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Proximal amyotrophy, Proximal muscle weakness, Gait disturbance, Hyperlipidemia, Hand tremor, Axo... |
OMIM:604484 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... |
ORPHA:276575 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Hypoketotic hypoglycemia, Polyphagia, Palpita... |
ORPHA:276556 |
Lipodystrophy, Familial Partial, Type 7 |
|
Babinski sign, Clonus, Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Los... |
OMIM:606721 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Proximal amyotrophy, Motor axonal neuropathy, Axonal d... |
ORPHA:98856 |
Lafora Disease |
|
Lafora bodies, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure with foc... |
ORPHA:501 |
Early-Onset Lafora Body Disease |
|
Lafora bodies |
ORPHA:324290 |
Dementia, Lewy Body |
|
Lewy bodies |
OMIM:127750 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Seizure, Cerebral atrophy, Interictal EEG abnormality, Motor deterioration, EEG with ... |
ORPHA:79263 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset tr... |
ORPHA:71529 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneratio... |
OMIM:615157 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Peripheral axonal neuropathy, Impaired distal tactile sensation, Decreased dist... |
OMIM:618400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Motor axonal neur... |
ORPHA:52430 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Gowers sign, Proximal muscle weakness in lower limbs, Neck flexor weakness, Elevated circulating ... |
OMIM:618138 |
Insulinoma |
|
Lethargy, Neuroendocrine neoplasm, Paresthesia, Polyphagia, Palpitations, Hyperinsulinemic hypogl... |
ORPHA:97279 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Peripheral axonal neuropathy, Frequent falls, Distal amyotrophy, Myoclon... |
OMIM:607317 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Motor deterioration, Abnormal heart morphology, Cognitive impairment, Myocl... |
ORPHA:79262 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... |
OMIM:615703 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired distal proprioception, Distal amyotrophy, Steppage gait, Global brain atrophy, Spastic d... |
ORPHA:94124 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Gowers sign, Proximal muscle weakness, Dementia, Frequent falls, Progressive distal muscular atro... |
OMIM:159950 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Dementia, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Peripheral axonal neuropathy, Cerebellar atrophy, Distal amyotrophy, Steppage ga... |
OMIM:607250 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolem... |
OMIM:610947 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... |
OMIM:601596 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Polyphagia, Failure to thrive, Pituitary hypothyroidism, Hypoglycemic s... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Polyphagia, Failure to thrive, Pituitary hypothyroidism, Hypoglycemic s... |
ORPHA:71526 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Chorea, Myoclonus, Hyperglycinemia, Increased circulating free fatty ... |
ORPHA:941 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Dementia, Increased neuronal autofluorescent lipopigment, Myoclonus, Leukoencephalopathy, Abnorma... |
OMIM:204300 |
Hemimegalencephaly |
|
EEG with focal sharp slow waves, Seizure, Polymicrogyria, Interictal EEG abnormality, Focal corti... |
ORPHA:99802 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Abnormal lower... |
ORPHA:95434 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Dysphagia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Hyperpheny... |
OMIM:261630 |
Epilepsy, Progressive Myoclonic, 10 |
|
Dementia, Lafora bodies, Cognitive impairment, Myoclonus, Spastic ataxia, Spastic tetraplegia, Se... |
OMIM:616640 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Myoclonic status epilepticus, Dysphagia, Limb myoclonus, Typical absence seizure, Fre... |
ORPHA:2590 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Myopathy, Dystonia, Failure to thrive, Cardiomyopathy, Ketotic hypoglycemia, Eleva... |
ORPHA:26792 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Seizure, Ataxia, E... |
OMIM:600143 |
Familial Infantile Bilateral Striatal Necrosis |
|
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... |
ORPHA:225154 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Prolonged QT inter... |
ORPHA:71212 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Dementia, Gait disturbance, Dystonia, Elevated ... |
OMIM:614298 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Dystonia, Hypoglycemia, Failure to thrive, Seizure, Progressive cerebellar ataxia, ... |
ORPHA:67046 |
Spinocerebellar Ataxia 17 |
|
Seizure, Dementia, Dysmetria, Neuronal loss in central nervous system, Bradykinesia, Intention tr... |
OMIM:607136 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Hypoglycemic seizures, Hyperbilirubinemia, Gonadotropin deficiency, Cholestasis, Adre... |
OMIM:609734 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Failure to thrive, Chorea, Focal T2 hyperintense basal ga... |
ORPHA:70472 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Gowers sign, Proximal muscle weakness in lower limbs, Fasting hypoglycemia, Obesity, Abnormal cir... |
ORPHA:171706 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Dementia, Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramida... |
OMIM:162350 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Psychomotor deterioration, Increased neuronal autofluorescent lipopigment, Myoclon... |
OMIM:256730 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Amyotrophic later... |
OMIM:602433 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... |
OMIM:204500 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Dysphagia, Cerebellar atrophy, Cognitive impairment, Myoclonus, Cogwheel rigidit... |
OMIM:607346 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... |
OMIM:618876 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Glucose intolerance, Cognitive impairment, Postural hypotension with compensatory tac... |
ORPHA:369873 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Elevated circulating creatine kinase concentration, Spastic gait, Myoclonus, Cognitive impairment... |
ORPHA:306511 |
Progressive Myoclonic Epilepsy Type 1 |
|
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, EEG with polyspike wave c... |
ORPHA:308 |
Developmental And Epileptic Encephalopathy 69 |
|
Dystonia, Myoclonus, Arthrogryposis multiplex congenita, Spastic tetraplegia, Hypsarrhythmia, Sta... |
OMIM:618285 |
Distal Myopathy, Tateyama Type |
|
Clumsiness, Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand mu... |
ORPHA:488650 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Abnormal mitochondria in muscle tissue, Peripheral axonal neuropathy, Cerebellar atroph... |
ORPHA:313772 |
Combined Saposin Deficiency |
|
Hepatomegaly, Optic atrophy, Babinski sign, Neuronal loss in central nervous system, Myoclonus, F... |
OMIM:611721 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... |
ORPHA:181393 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor, Mental deterioration |
OMIM:616187 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Cerebellar atrophy, Neuronal loss in basal ganglia, Rigidity, Chorea, Weight ... |
ORPHA:248111 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Chorea, Myoclonus, Seizure, Inability to walk, Polymicrogyria, Hyperkinetic movements, ... |
OMIM:614254 |
Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Dementia, Bilateral tonic-clonic seizure, Lafora bodies, Myoclonus, Progressive... |
OMIM:254780 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia, Seizure, Abnormality of the basal ganglia, Cerebral atrophy, Hypert... |
ORPHA:391428 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy |
OMIM:608907 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Dysphagia, Ragged-red muscle fibers, Gait disturbance, E... |
ORPHA:276435 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Proximal muscle weakness, Clonus, Weakness of facial musculature, Distal amyotrophy, Failure to t... |
OMIM:618811 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hyperammonemia, Jaundice, Lethargy, Ventricular septal defect, Atrial sep... |
ORPHA:26793 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Optic atrophy, Babinski sign, Ragged-red muscle fibers, Abnormal mitochon... |
OMIM:252011 |
Dravet Syndrome |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:33069 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Proximal muscle weakness, Abnormal circulating creatine kinase concentration, Myopa... |
ORPHA:369840 |
Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy, Photosensitive myoclonic seizure, Cerebellar atrophy, Febrile seizure (within the ... |
ORPHA:263516 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Distal amyotrophy, Axonal degeneration, Dis... |
OMIM:606482 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Ventricular hyper... |
OMIM:619048 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... |
OMIM:256731 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... |
OMIM:612526 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Myoclonus, Seizure, Ataxia, Muscle weakness, Spasticity, Incr... |
OMIM:545000 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hand tremor, ... |
ORPHA:79299 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... |
ORPHA:71277 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Seizure, Hyperkinetic... |
OMIM:616981 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Lewy bodies |
OMIM:614251 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Myopathy, Hypertrophic cardiomyopathy, Hypoglyc... |
OMIM:212140 |
Parkinson Disease 21 |
|
Lewy bodies |
OMIM:616361 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Concentric hypertrophic cardiomyopathy, Optic atrophy, Increased extraneuronal autofluorescent li... |
OMIM:204200 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... |
OMIM:604168 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Global brain a... |
OMIM:609056 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, ... |
OMIM:613877 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Seizure, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity, Cessation... |
ORPHA:411515 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis... |
ORPHA:282166 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant d... |
ORPHA:280356 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Proximal muscle weakness, Gait disturbance, Steppage gait, Axonal degeneration, Distal sensory im... |
OMIM:616155 |
Riboflavin Transporter Deficiency |
|
Hypertension, Dysphagia, Abnormal cranial nerve morphology, Optic disc pallor, Skeletal muscle at... |
ORPHA:97229 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Febrile seizure (within the age range of 3 months to 6 years), Hypoglycemi... |
ORPHA:42 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Dysphagia, Dystonia, Dysmetria, Neurodegenerati... |
OMIM:610217 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... |
OMIM:232400 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Dysphagia, Tonic seizure, Choreoathetosis, Global brain atrophy, Focal motor seizure, H... |
OMIM:308350 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar verm... |
ORPHA:98763 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Myoclonus, Hypsarrhythmia, Seizure, Spasticity, Cerebral cortical atrophy |
OMIM:617065 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Dysphagia, Cerebellar atrophy, Skeletal muscle atrophy, Bilateral tonic-clonic seizure,... |
OMIM:614487 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hypertension, Increased facial adipose tissue, Loss of subcutaneous adipose tissue ... |
OMIM:608600 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Myoclonus, Splenomegaly, Seizure, Intention tremor, Hypersplen... |
OMIM:610539 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... |
OMIM:616516 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Cognitive impairment, Memory impairment, Hyperuricemia, Hypercholesterolemia, Seizu... |
ORPHA:77296 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Optic atrophy, Dystonia, Diffuse cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal mot... |
ORPHA:352596 |
Lipodystrophy, Familial Partial, Type 6 |
|
Proximal muscle weakness, Insulin resistance, Abnormal circulating lipid concentration, Elevated ... |
OMIM:615980 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Limb hypertonia, Seizure, Cerebral atrophy, Brain atrophy, Attention deficit hyperactivity disord... |
ORPHA:442835 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Optic atrophy, Dysphagia, Dystonia, Hypoplasia of the pons, Myoclonus, Hypsarrhythmia, Microcepha... |
OMIM:617669 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Dementia, Gait disturbance, Caudate atrophy, Memory impairment, Myoclonus, Leukoen... |
OMIM:618193 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Dementia, Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremo... |
OMIM:137440 |
Hsd10 Disease |
|
Optic atrophy, Dysphagia, Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Seizure, Focal ... |
ORPHA:391417 |
Caribbean Parkinsonism |
|
Dystonia, Midline brain calcifications, Dementia, Weakness due to upper motor neuron dysfunction,... |
ORPHA:97355 |
Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... |
OMIM:606777 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Failure to... |
ORPHA:2394 |
Mehmo Syndrome |
|
Babinski sign, Hypoglycemia, Small for gestational age, Gait ataxia, Seizure, Spastic tetraparesi... |
OMIM:300148 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive, Myoclonus, Seizure, Progressive microcephaly, Hypertonia, Unstea... |
OMIM:610090 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Proximal muscle weakness, Cerebellar atrophy, Myoclonus, Increased intramyocellular lipid droplet... |
OMIM:612016 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Abnor... |
ORPHA:314632 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Myoclonus, Seizure, Ataxia, Inability to walk, EEG abnormality, Spasticity, Secondary m... |
OMIM:617829 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Failure to thrive, Abnormal circulating threonine concentration, Global brain atrop... |
ORPHA:79096 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early... |
ORPHA:3006 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... |
ORPHA:401901 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Choreoathetosis, Myoclonus, Seizure, Inability to walk, Hyperkinetic movements, Cerebra... |
OMIM:618497 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Ventricular septal defect, Obesity, Cognitive impairment, Ventricular septal hyper... |
OMIM:614947 |
Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Failure to thrive, Myoclonus, Seizure, Ataxia, Spasticity, Microcephaly |
OMIM:612015 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic paralysis, Peripheral axonal degeneration, Small for gestational age, Limb muscle w... |
OMIM:604320 |
Dentatorubral-Pallidoluysian Atrophy |
|
Dementia, Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign, Atrophy o... |
OMIM:125370 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Hypokalemia, Polydipsia, Salt craving, Hypomagn... |
ORPHA:199343 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Seizure, Cerebral... |
OMIM:616878 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Cognitive impairment... |
ORPHA:561854 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Optic atrophy, Dysphagia, Gait disturbance, Dystonia, Chorea, Myoclonus, A... |
OMIM:617282 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Hypoglycemia, Small for gestational age, Fa... |
OMIM:614702 |
Frontotemporal Dementia |
|
Polyphagia, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Frontal lobe ... |
OMIM:600274 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Portal fibrosis, Splenomegaly, Hepatic fibrosis, Increased sarcoplasmic gly... |
ORPHA:370 |
Peho-Like Syndrome |
|
Optic atrophy, Cerebellar atrophy, Myoclonus, Hypsarrhythmia, Seizure, Pachygyria, Progressive mi... |
OMIM:617507 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Hyperglycinemia, Seizure, Epileptic spasm, Cerebral white matter hypoplasia, Knee ... |
ORPHA:284417 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Proximal muscle weakness, Dystonia, Cerebellar atrophy, Myoclonus, Seizure, Progressive cerebella... |
ORPHA:139485 |
Neuroferritinopathy |
|
Abnormality of the basal ganglia, Decreased circulating ferritin concentration, Caudate atrophy, ... |
ORPHA:157846 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Dystonia, Hypoglycemia, Decreased liver function, Atax... |
OMIM:246900 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Failure to thrive, Myoclonus, Decreased nerve condu... |
OMIM:618356 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Dystonia, Opisthotonus, Failure to thrive, Chorea, Myoclonus, M... |
OMIM:616672 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Seizure, Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Lewy bodies |
OMIM:619133 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Focal T2 hyperintense basal ganglia lesion, Stereotypy, Seizure, Cerebral atrophy, In... |
ORPHA:79264 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Seizure, Ataxia, Spasticity |
OMIM:240800 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decre... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decre... |
ORPHA:98853 |
Creutzfeldt-Jakob Disease |
|
Dementia, Memory impairment, Myoclonus, Extrapyramidal muscular rigidity, Hemiparesis, Gait ataxi... |
OMIM:123400 |
Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Ataxia, Hypoglycemia, Cerebellar hypoplasia |
OMIM:616113 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Global brain atrophy, Focal impaired awareness seizure, Elevated circulating acylca... |
ORPHA:480864 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Stereotypy, Seizure, Corpus callosum atrophy, Cerebral atrophy, Focal-onset seizure, Motor deteri... |
ORPHA:168491 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Gait disturbance, Axonal loss, Caudate atrophy, Peripheral demyelination, Myoclonu... |
OMIM:221770 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Paresthesia, Dysmetria, Motor axonal neuropathy, Acute rhabdomyolysis, Intention tr... |
ORPHA:48431 |
Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Seizure, Akinesia, Tongue fasc... |
ORPHA:99 |
Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Dementia, Neuronal loss in central nervous system, Myoclonus, Abnormality of extra... |
ORPHA:204 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... |
ORPHA:276608 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Leukoencephalopathy, Focal impaired awareness seizure, Stereotypy, Seizure, Cerebral atrophy, Bil... |
ORPHA:178469 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous ad... |
OMIM:604367 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Spee... |
ORPHA:79237 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decreased cervical spine flex... |
ORPHA:98863 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Hypoglycemia, Elevated hepatic transami... |
OMIM:256810 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle hypertrophy, Insulin resistance, Macro... |
ORPHA:528 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Knee flexion contracture, E... |
OMIM:619303 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hepatomegaly, Optic atrophy, Poor head control, Hypertrophic cardiomyopat... |
OMIM:614299 |
Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies |
OMIM:605543 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyper... |
ORPHA:369 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Polyphagia, Recurrent hypoglycemia, Obesity... |
ORPHA:254516 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Myoclonus, Generalized amyotrophy, Progressive gait ataxia, Intention tremor, Progressive cerebel... |
ORPHA:2589 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Proximal muscle weakness in lower limbs, Loss of subcutaneous adipose tissue in lim... |
ORPHA:435660 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... |
OMIM:222100 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Dementia, Myoclonus, Seizure, Ataxia, Generalized myoclonic seizure |
OMIM:208700 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Chore... |
OMIM:619317 |
Cog8-Cdg |
|
Poor head control, Cerebellar atrophy, Hypoglycemia, Skeletal muscle atrophy, Failure to thrive, ... |
ORPHA:95428 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive, Facial palsy, Neonatal hypoglycemia, Muscle weakness, Hypocalcemia... |
OMIM:606407 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decre... |
ORPHA:98855 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly |
OMIM:618010 |
Citrullinemia Type Ii |
|
Hyperlipidemia, Decreased body mass index, Seizure, Cerebral edema, Lethargy, Decreased HDL chole... |
ORPHA:247585 |
Tay-Sachs Disease |
|
Clumsiness, Global brain atrophy, Quadriceps muscle atrophy, Focal impaired awareness seizure, Fa... |
ORPHA:845 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Babinski sign, Dysphagia, Dystonia, Gait imbalance, Choreoathetosis, Elevated ci... |
ORPHA:64753 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity... |
OMIM:619028 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Neuronal loss in central nervous system, Polyphagia, Stereotypy |
OMIM:172700 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Dysgenesis of the cerebellar vermis, Failure to thrive, Cardiomyopathy, Decreased l... |
ORPHA:67048 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Abnormal periventricular white matter morphology, Lower limb muscle weakness, Knee clonus, Ankle ... |
OMIM:604360 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated hepatic transaminase, Increased LDL cholesterol c... |
OMIM:616828 |
Neutral Lipid Storage Myopathy |
|
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Increased intramyocellular lipid ... |
ORPHA:98908 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Global brain atrophy, Seizure, Abnormal periventricular white matter morphology, Facial myokymia,... |
ORPHA:139396 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... |
ORPHA:66628 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Paresthesia, Leukoencephalopathy, Dementia, External o... |
ORPHA:298 |
Leptin Receptor Deficiency |
|
Polyphagia, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Abnormal eating behavior,... |
OMIM:614963 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebellar gliosi... |
OMIM:616505 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hypoglycemia, Choreoathetosis, Progressive neurologic... |
OMIM:300438 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, St... |
OMIM:615338 |
Atherosclerosis Susceptibility |
|
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Angelman Syndrome |
|
Seizure, Recurrent hand flapping, Optic disc pallor, Polyphagia, Tongue thrusting, EEG abnormalit... |
ORPHA:72 |
Alzheimer Disease 3 |
|
Babinski sign, Dysphagia, Dementia, Gait disturbance, Dystonia, Memory impairment, Myoclonus, Abn... |
OMIM:607822 |
Leigh Syndrome |
|
Multiple joint contractures, Neuronal loss in basal ganglia, Hypoglycemia, Focal T2 hyperintense ... |
ORPHA:506 |
Cog4-Cdg |
|
Failure to thrive in infancy, Limb hypertonia, Fatal liver failure in infancy, Hypercholesterolem... |
ORPHA:263501 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Focal tonic seiz... |
ORPHA:485350 |
Epilepsy, Progressive Myoclonic, 6 |
|
Elevated circulating creatine kinase concentration, Myoclonus, Seizure, Ataxia, Tremor, Difficult... |
OMIM:614018 |
Cerebrotendinous Xanthomatosis |
|
Progressive psychomotor deterioration, Abnormal auditory evoked potentials, Global brain atrophy,... |
ORPHA:909 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Dandy-Walker malformation, Hepatomegaly, Myopathy, Decreased plasma free carnitine, Hypoketotic h... |
ORPHA:228305 |
Early Myoclonic Encephalopathy |
|
Dysphagia, Infantile spasms, Focal tonic seizure, Myoclonus, Focal motor seizure, Hypsarrhythmia,... |
ORPHA:1935 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Dystonia, Methylmalonic acidemia, Hypoglycemia, Failure to thrive, Memory ... |
ORPHA:289504 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Bi... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:619386 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... |
ORPHA:179494 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Dysphagia, Dementia, Rigidity, Distal amyotrophy, Dilated fourth ventricle, Dysm... |
OMIM:183090 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosi... |
OMIM:614300 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... |
ORPHA:240103 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Polyphagia, Tall stature |
OMIM:618406 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Dementia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, EEG with spike-wave c... |
OMIM:254800 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Babinski sign, Abnormality of central somatosensory evoked potent... |
ORPHA:139399 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypopituitarism |
OMIM:144600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Optic atrophy, Telangiectasia, Paresthesia, Myoclonus,... |
ORPHA:79279 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Splenomegaly, Lipoatrophy, Diab... |
ORPHA:79083 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, K... |
OMIM:615490 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Glycerol Kinase Deficiency |
|
Myopathy, Hypoglycemia, Small for gestational age, Seizure, Muscular dystrophy, Hypertriglyceride... |
OMIM:307030 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Obesity, Polyphagia, Stereotypy |
OMIM:613886 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Polyphagia, Neurofibrillary tangles, Neuronal loss in central nervous system, Memor... |
OMIM:607485 |
Primary Progressive Freezing Gait |
|
Postural tremor, Babinski sign, Clonus, Dysphagia, Hypertension, Dementia, Rigidity, Frequent fal... |
ORPHA:75567 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
OMIM:615127 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Endocardial fibroelastosis, Restrictive cardiomyopathy, Cognitive impairment, Seizu... |
ORPHA:2022 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Limb hypertonia, Atrophy/Degeneration affecting the brainstem, Neonatal hypoglycemia, Seizure, Co... |
ORPHA:565624 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Gait disturbance, Axonal degeneration, Positive Romberg sign, Truncal ti... |
ORPHA:88628 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia |
OMIM:612736 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Skeletal mus... |
ORPHA:264580 |
Whipple Disease |
|
Myocarditis, Hyponatremia, Hepatomegaly, Cachexia, Pericarditis, Polydipsia, Insulin resistance, ... |
ORPHA:3452 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:255120 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Dysphagia, Hypoglycemia, Progressive neurologic deterioration, Hyperammonemia, Cer... |
OMIM:618253 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Optic atrophy, Fasting hypoglycemia, Hypoglycemia, Seizure, Hepatic steatosis, Cyan... |
OMIM:261680 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Poor head control, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
ORPHA:289266 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Dysphagia, Dementia, Dystonia, Cataplexy, Neuronal loss in central nervous system, ... |
OMIM:257220 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Parkinsonism, Dementia, Semantic dementia, Memory impairment, Myoclonus, Seizure, Ataxia, Hyperto... |
ORPHA:1020 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Cerebellar atrophy, Failure to thrive, Myoclonus, Seizure, Ataxia, Hypertonia, Spas... |
OMIM:618426 |
Developmental And Epileptic Encephalopathy 32 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616366 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Myoclonus, Hypsarrhythmia, Inguinal hernia, Seizure, Hypertonia, Flexion c... |
OMIM:618011 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Hepat... |
ORPHA:79240 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Babinski sign, Dysphagia, Dementia, Dystonia, Rigidity, Cognitive impairment, Myocl... |
ORPHA:171695 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Decreased resting energy expenditure, Impaired oropharyngeal sw... |
ORPHA:404454 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Hypertension, Progressive psychomotor deterioration, Polyphagia, Myoclonus, Abnorm... |
ORPHA:251004 |
Adult-Onset Dystonia-Parkinsonism |
|
Clumsiness, Dystonia, Dysphagia, Abnormal circulating creatine kinase concentration, Progressive ... |
ORPHA:199351 |
Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Dyssynergia, Oromandibular dystonia, Seizure, Optic neuropathy, Dementia... |
ORPHA:101 |
Short Stature Due To Ghsr Deficiency |
|
Abnormality of body weight, Decreased body weight, Hypoglycemia |
ORPHA:314811 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-re... |
OMIM:607459 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Proximal muscle weakness, Dysphagia, Prolonged QT interval, Skeletal muscle hypertr... |
OMIM:613327 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dysphagia, Dementia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... |
ORPHA:411602 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Poor head control, Clonus, Dysphagia, Opisthotonus, Dystonia, Rigidity, Choreoathetosis, Chorea, ... |
ORPHA:13 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atrophy, Impaired tac... |
OMIM:619092 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Clonus, Myoclonus, Seizure, Hypertonia, Brain atrophy, Secondary microcephaly |
OMIM:617290 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Dysphagia, Cerebellar atrophy, Myoclonus, Intention tremor, Generalized-onset se... |
OMIM:254900 |
Narp Syndrome |
|
Babinski sign, Proximal muscle weakness, Optic disc pallor, Myoclonic spasms, Dementia, Corticosp... |
ORPHA:644 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Abnormal heart morphology, Stereotypy, Hypercholesterolemia, Seizure, Hy... |
OMIM:182290 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Postural tremor, Dementia, Dystonia, Kinetic tremor, Cerebral white m... |
ORPHA:98756 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Microcephaly, Large for gestational age |
OMIM:617119 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration, Tendon xanthomatosis |
OMIM:618666 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, L... |
ORPHA:2348 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Cholangitis, Cerebellar atrophy, H... |
OMIM:124000 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dysphagia, Dementia, Dystonia, Abnormal circulating cholesterol concentration, Cata... |
OMIM:607625 |
Parkinson Disease 8, Autosomal Dominant |
|
Substantia nigra gliosis, Lewy bodies |
OMIM:607060 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Opisthotonus, Progressive extrapyramidal movement disorder, Choreoathetosis, ... |
ORPHA:445038 |
Bilateral Generalized Polymicrogyria |
|
Stereotypy, Focal-onset seizure, Oral-pharyngeal dysphagia, Oculogyric crisis, Generalized tonic ... |
ORPHA:208447 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy |
OMIM:616840 |
Lipodystrophy, Familial Partial, Type 2 |
|
Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Increased adipose tissue around... |
OMIM:151660 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Central nervous system degeneration, Hepatomegaly, Myopathy, Abnormal circulating creatine kinase... |
ORPHA:98907 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Optic atrophy, Myoclonus, Seizure, EEG abnormality, Spasticity, Cerebr... |
OMIM:617281 |
Melas |
|
Dilated cardiomyopathy, Cardiac conduction abnormality, Seizure, Diabetes mellitus, Type I diabet... |
ORPHA:550 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Decreased plasma free carnitine, Hyperlipidemia, Elevated circ... |
ORPHA:228308 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Cardiomyopathy, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Neonatal hypog... |
OMIM:619046 |
Idiopathic Camptocormia |
|
Abnormal pons morphology, Dystonia, Myositis, Elevated circulating creatine kinase concentration,... |
ORPHA:1320 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Decreased plasma free carnitine, Hyperlipidemia, Elevated circ... |
ORPHA:157 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... |
ORPHA:2382 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hypertension, Atrial fibrillation, Polyphagia, Polydipsia, Palpitations, Failure to... |
ORPHA:525731 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Dysphagia, Cerebellar atrophy, Axonal loss, Rigidity, Neurodegeneration, ... |
OMIM:617672 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... |
OMIM:617156 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Leg muscle st... |
ORPHA:391411 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Myoclonus, Loss of Purkinje cells in the cerebellar vermis, Seizure, Hype... |
OMIM:225753 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone level, Attention deficit... |
OMIM:301033 |
Dpm1-Cdg |
|
Early onset absence seizures, Seizure, Hepatosplenomegaly, Cerebral atrophy, Camptodactyly, Gener... |
ORPHA:79322 |
Infantile Krabbe Disease |
|
Hyperesthesia, Progressive neurologic deterioration, Seizure, Prolonged brainstem auditory evoked... |
ORPHA:206436 |
Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Generalized amyotrophy, Seizure, Status epilepticus, Gait ataxia |
OMIM:616540 |
Neonatal Hemochromatosis |
|
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... |
ORPHA:446 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Failure to thrive in infancy, Dystonia, Bilateral tonic-clonic seizure, Myoclonus,... |
OMIM:619065 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity |
OMIM:615986 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Peripheral demy... |
OMIM:220111 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Athetosis, Optic atrophy, Hypertrophic cardiomyopathy, Cerebellar atrophy, Hypoglycemia, Gait dis... |
OMIM:618241 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Man1B1-Cdg |
|
Polyphagia, Periventricular heterotopia, Truncal obesity, Seizure, Resting tremor, Cerebellar hyp... |
ORPHA:397941 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young, Poor fine motor coordination |
ORPHA:254531 |
Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Infantile spasms, Impaired pai... |
ORPHA:3095 |
Cystinosis |
|
Gait disturbance, Myopathy, Hypokalemia, Polydipsia, Failure to thrive, Hypophosphatemia, Stereot... |
ORPHA:213 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Polyphagia, Umbilical hernia, Tall stature, Insulin-re... |
OMIM:269700 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Peripheral demyelination, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal... |
ORPHA:397946 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Failure to thrive, Hypsarrhythmia, Seizure, Sec... |
OMIM:610768 |
Parkinson Disease, Late-Onset |
|
Dystonia, Dysphagia, Dementia, Rigidity, Neuronal loss in central nervous system, Bradykinesia, L... |
OMIM:168600 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Hypoglycemia, Failure to thrive, Abnormality of extr... |
OMIM:614739 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Polyphagia, Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at ... |
OMIM:608594 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletio... |
OMIM:251880 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Increased intramyocellular lipid droplets, Elevated circulating acylcarnitine conce... |
ORPHA:26791 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Seizure, Cerebral atrophy, Gowers sign, Proximal muscle weakness, Speech apraxia, Hepatic steatos... |
OMIM:615356 |
Waisman Syndrome |
|
Lewy bodies, Megalencephaly |
OMIM:311510 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Optic atrophy, Dystonia, Prolonged QT i... |
ORPHA:66634 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kina... |
OMIM:212138 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Dysmetria, Failure to thrive, Myoclonus, Progressive neurologic deterior... |
OMIM:618251 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Mental deterioration, Attention def... |
OMIM:619191 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Acroparesthesia, Dementia, Limb myoclonus, Paresthesia, Cognitive impairment, Abnormality of extr... |
ORPHA:356 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Fatigable weakn... |
ORPHA:99901 |
6Q16 Microdeletion Syndrome |
|
Obesity, Broad-based gait, Polyphagia, Poor coordination |
ORPHA:171829 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Hypoglycemia, Skeletal muscle atrophy, Seizu... |
ORPHA:156 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Decreased liver functio... |
OMIM:615160 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Babinski sign, Proximal muscle weakness in lower limbs, Dysphagia, Skeletal muscle atrophy, Limb ... |
OMIM:613954 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Poor head control, Ataxia, Eyelid myoclonus, Cerebellar hypoplasia, Cerebral atroph... |
OMIM:613839 |
Spinocerebellar Ataxia Type 1 |
|
Impaired proprioception, Gait imbalance, Atrophy/Degeneration affecting the brainstem, Fasciculat... |
ORPHA:98755 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Progressive spasticity, Optic atrophy, Babinski sign, Nonketotic hyperglycinemia, Myoclonus, Spas... |
ORPHA:401866 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Athetosis, Optic atrophy, Dystonia, Cerebellar atrophy, Hypoglycemia, Limb hypertonia, Skeletal m... |
OMIM:617710 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Classic Galactosemia |
|
Clumsiness, Hepatomegaly, Postural tremor, Lethargy, Hypoglycemia, Gait imbalance, Gait disturban... |
ORPHA:79239 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Seizure, Ataxia, Hypertriglyceridemia, Hypoalbuminemia, Mental deterioration, Micro... |
OMIM:617575 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Seizure, Myoclonus, Slender build, Distal muscle weakness |
OMIM:300699 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Elevated circulating creatine kinase concen... |
OMIM:618120 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Clonus, Hypoglycemia, Neuronal loss in the cerebral cortex, Hyperalaninemia, Seizur... |
OMIM:266150 |
Parkinson Disease 1, Autosomal Dominant |
|
Gait disturbance, Dysphagia, Dementia, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesi... |
OMIM:168601 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Clonus, Babinski sign, Myoclonic spasms, Rigidity, Neuronal loss in central nervou... |
OMIM:614498 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Impaired proprioception, Paresthesia, Fasciculations, ... |
OMIM:164400 |
Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Cerebellar atrophy, Frequent falls, Dilated fourth ventricle, Dysmetria, Chorea, Myoclo... |
ORPHA:251347 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Hepatomegaly, Bilateral tonic-clonic seizure, Myoclonus, Splenomegaly |
ORPHA:139406 |
Glutaric Acidemia I |
|
Hepatomegaly, Dystonia, Hypoglycemia, Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive,... |
OMIM:231670 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Seizure, Tremor |
OMIM:611092 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Poor head control, Cerebellar atrophy, Hypoglycemia, ... |
OMIM:618329 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Myoclonus, Seizure, Ataxia, Brain atrophy, Ophthalmoplegia, Lethargy |
OMIM:618225 |
Pontocerebellar Hypoplasia Type 4 |
|
Myoclonus, Arthrogryposis multiplex congenita, Primary microcephaly, Seizure, Hypertonia, Olivopo... |
ORPHA:166063 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Continuous Spikes And Waves During Sleep |
|
Clumsiness, Interictal epileptiform activity, Focal impaired awareness seizure, Seizure, Continuo... |
ORPHA:725 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Hypoplasia of the pons, Congenital contracture, Fasciculations, B... |
OMIM:607596 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Telangiectasia, Insulin resistance, Lipodystrophy, Hepatic steatosis, Hypertriglyce... |
OMIM:615381 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Simple febrile seizure, EEG with focal spike waves, Cerebellar atrophy, Limb myoclonu... |
ORPHA:352582 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor,... |
OMIM:608105 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus |
ORPHA:36899 |
Dystonia 28, Childhood-Onset |
|
Gait disturbance, Dystonia, Torticollis, Cognitive impairment, Myoclonus, Oromandibular dystonia,... |
OMIM:617284 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia, Subdural hemorrhage, Seizure, Abnormality of the basal ganglia, Dementia, T... |
ORPHA:25 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Skeletal muscle atrophy, Muscle weakness |
OMIM:162100 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Proximal amyotrophy, Proximal muscle weakness, Cardiac myxoma, Hypertension, Type II diabetes mel... |
ORPHA:189439 |
Kohlschutter-Tonz Syndrome-Like |
|
Global brain atrophy, Stereotypy, Seizure, Focal-onset seizure, Decreased body weight, Generalize... |
OMIM:619229 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... |
OMIM:602629 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Interictal epileptiform activity, Cerebral edema, Abno... |
ORPHA:79139 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
Kufor-Rakeb Syndrome |
|
Torticollis, Paraparesis, Seizure, Gait disturbance, Dementia, Bradykinesia, Leg muscle stiffness... |
OMIM:606693 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypokalemia, Bilater... |
ORPHA:369929 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb hypertonia, Leukoencephalopathy, Generalized amyotrophy, Neonatal hypoglycemia, Seizure, Cer... |
ORPHA:572798 |
Glycine Encephalopathy |
|
Myoclonus, Hyperglycinemia, Seizure, Hyperactivity, Agenesis of corpus callosum, Lethargy |
OMIM:605899 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Optic atrophy, Babinski sign, Dysphagia, Dystonia, Diffuse hepatic steatosis, Seizu... |
OMIM:264470 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia, EEG with focal epileptiform discharges, Cognitive impairment, Myoclonus, ... |
ORPHA:163921 |
Gangliocytoma |
|
Abnormal prolactin level, Dementia, Paresthesia, Polyphagia, Abnormality of the pituitary gland, ... |
ORPHA:251937 |
Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Dementia, Myoclonus, Progressive neurologic deterioration, Splenomegaly, Ataxia, De... |
OMIM:231000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Poor head control, Cerebellar atrophy, Failure to thrive, Myoclonus, Hypsarrhythmia, Cerebral atr... |
OMIM:619060 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Abnormal eating behavior, Polyphagia |
OMIM:614962 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Seizure, Hypoglycemia |
ORPHA:35701 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Decreased liver function, Hepatic steatosis, Seizure, Spasticity, Elevated hep... |
OMIM:617093 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Seizure, Inability ... |
OMIM:615547 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dementia, Limb myoclonus, Dystonia, Li... |
ORPHA:454887 |
Infantile Spasms Syndrome |
|
Myoclonus, Hypsarrhythmia, Infantile spasms |
ORPHA:3451 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Proximal muscle weakness, Ragged-red muscle fibers, Impaired distal propr... |
ORPHA:70595 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Myoclonus, Spastic tetraplegia, Seizure, Flexion contracture, Cerebr... |
OMIM:614462 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Cerebellar atrophy, Hypokalemia, Polydipsia, Salt craving, Intention tremor, Hypomagnesemia, Peri... |
OMIM:612780 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Dysphagia, Impaired temperature sensation, Triceps weakness, Impaired pain sensation, First dorsa... |
OMIM:619574 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Ventricular tachycardia, Cardiomyop... |
ORPHA:159 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Dysmetria, Myoclonus, Seizure, Ataxia, Tetralogy of Fallot, Agenesis of corpus callosum |
OMIM:250620 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Myoclonus, Hyperuricemia, Hyperammonemia, Seizure, EEG abnormality, S... |
OMIM:246450 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia, Seizure, Progressive microcephaly, Increased serum pyruvate |
OMIM:614741 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Stereotypy, Seizure, Ataxia, Hyperactivity, Microcephaly |
ORPHA:228402 |
Epilepsy, Progressive Myoclonic, 8 |
|
Dementia, Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure |
OMIM:616230 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Dystonia, Ragged-red muscle fibers, Dysplastic corpus callosum, Failure to thrive, ... |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Myoclonus, Seizure, EEG abnorma... |
OMIM:614946 |
Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Dysphagia, Limb myoclonus, Skeletal muscle atrophy, Dysmetria, Hand tremor, Loss o... |
ORPHA:276198 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Gait imbalance, Myoclonus, Tongue thrusting, Abnormal eating behavior, Seizure, Ataxia... |
ORPHA:98794 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hypertension, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Dia... |
ORPHA:79084 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Spastic hemiparesis, Leukoencephalopathy, Hyperammonemia, Seizure, Acute ... |
ORPHA:20 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Periventricular white matter hyperintensities, Seizure, Unsteady gait, Ga... |
OMIM:618158 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Polyphagia, Tall stature, Incre... |
ORPHA:300373 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Cognitive impairment, Hyperuricemia, Seizure |
ORPHA:364 |
Mitochondrial Trifunctional Protein Deficiency |
|
Generalized muscle weakness, Diffuse hepatic steatosis, Seizure, Lower limb muscle weakness, Leth... |
ORPHA:746 |
Lysosomal Acid Lipase Deficiency |
|
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hypertension, Decreased HDL ... |
OMIM:278000 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Dementia, Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal motor... |
OMIM:604218 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Neuronal loss in central nervous system, Myo... |
OMIM:600795 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Lower limb spasticity, Seizure, Ataxia, Inability to walk, Waddling gait, Broad-based g... |
OMIM:616756 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Dementia, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory ev... |
OMIM:607876 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia |
OMIM:262400 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hypertension, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstru... |
ORPHA:69663 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Hyperglycemia, ST segment depression, Cognitive impai... |
ORPHA:90065 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Poor head control, Hypoglycemia, Skeletal muscle atrophy, Failure to thrive, Focal T2 hyperintens... |
OMIM:245400 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Proximal muscle weakness, Dyspha... |
ORPHA:275872 |
Fructose And Galactose Intolerance |
|
Seizure, Hypoglycemia |
OMIM:229500 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Weight loss, Hyperactivity, Muscle weakness, Congestive heart failure |
OMIM:275000 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
Acquired Partial Lipodystrophy |
|
Myopathy, Insulin resistance, Seizure, Hepatic steatosis, Lipoatrophy |
ORPHA:79087 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Gait ataxia, Bradykinesia, Seizu... |
OMIM:618877 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Skeletal muscle hypertrophy, Ventricular arrhythmia, Increased adipose tissue around the neck, Sp... |
ORPHA:280365 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperglutaminemia, Setting-sun ... |
OMIM:619355 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Proximal amyotrophy, Neuroendocrine neoplasm, Proximal muscle weakness, Hypertension, Hyperlipide... |
ORPHA:189427 |
X-Linked Intellectual Disability, Hedera Type |
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Babinski sign, Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent fal... |
ORPHA:93952 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Hypoglycemia, Focal T2 hyperintense basal ganglia lesion, Increased intramyocellular lipid drople... |
OMIM:252010 |
Fish-Eye Disease |
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Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Combined Oxidative Phosphorylation Deficiency 16 |
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Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy |
OMIM:615395 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Cerebellar atrophy, Hepatic fibrosis, Dysmetria, Failure to thrive, Seizure, Hepati... |
OMIM:616263 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Optic atrophy, Rigidity, Small for gestational age, Myoclonus, Focal T2 hyperintense thalamic les... |
OMIM:619057 |
Dystonia 11, Myoclonic |
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Torticollis, Myoclonus, Writer's cramp, Tremor |
OMIM:159900 |
Early Infantile Epileptic Encephalopathy |
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Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... |
ORPHA:1934 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Myopathy, Hypertension, Insulin resistance, Abnormal circulating lipid concentratio... |
ORPHA:79086 |
Benign Adult Familial Myoclonic Epilepsy |
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Hand tremor, Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
Cebalid Syndrome |
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Seizure, Congenital diaphragmatic hernia, Polymicrogyria, Polyphagia |
OMIM:618774 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
Histidinuria-Renal Tubular Defect Syndrome |
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Hypoglycemia, Cerebral cortical atrophy |
ORPHA:2158 |
Combined Oxidative Phosphorylation Deficiency 47 |
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Hepatomegaly, Dysphagia, Hypoglycemia, Failure to thrive, Elevated hepatic transaminase, Microcep... |
OMIM:618958 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Motor axonal neuropathy, Joint contracture of the hand, Fasciculations, Atrophy of the spinal cor... |
ORPHA:466768 |
Isolated Complex I Deficiency |
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Hypertrophic cardiomyopathy, Hepatomegaly, Optic neuropathy, Optic disc pallor, Hypoglycemia, Poo... |
ORPHA:2609 |
Restless Legs Syndrome, Susceptibility To, 1 |
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Myoclonus, Paresthesia |
OMIM:102300 |
Pyruvate Carboxylase Deficiency |
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Hypoglycemia, Hypernatremia, Hyperammonemia, Seizure, Abnormal pyramidal sign, Increased caudate ... |
ORPHA:3008 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Infantile spasms, Hypoplasia of the pons, Myoclonus, Focal impaired awareness seizure, Hypsarrhyt... |
ORPHA:411986 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Splenomegaly, Seizure, Increased circulating ferritin concentration, Hypertriglycer... |
OMIM:603552 |
Alpers-Huttenlocher Syndrome |
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Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
Aicardi-Goutieres Syndrome 9 |
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Increased blood pressure, Seizure, Hepatosplenomegaly, Acute pancreatitis, Cerebral atrophy, Basa... |
OMIM:619487 |
Insulin Autoimmune Syndrome |
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Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
ORPHA:96184 |
Hemochromatosis, Neonatal |
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Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Laron Syndrome |
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Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Hypertrophic cardiomyopathy, Hepatomegaly, Optic atrophy, Gait disturbance, Failure to thrive, Re... |
ORPHA:436271 |
Juvenile Sialidosis Type 2 |
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Hepatomegaly, Optic atrophy, Dysphagia, Dysmetria, Abnormal heart morphology, Myoclonus, Lower li... |
ORPHA:93399 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... |
OMIM:600649 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Paralysis, Microvesicular hepatic steatosis, Hepatomegaly, Cerebellar atrophy, Dementia, Failure ... |
OMIM:203700 |
Methanol Poisoning |
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Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... |
ORPHA:31825 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Obesity, Polyphagia |
ORPHA:177910 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Frequent falls, Chorea, Seizure, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Jeavons Syndrome |
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EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... |
ORPHA:139431 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Hypoalbuminemia, Decreased muscle mass, Periventricular cysts, Hepatic steatosis, Hepatosplenomeg... |
OMIM:619013 |
Benign Familial Neonatal Epilepsy |
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Increased theta frequency activity in EEG, Clonus, Limb myoclonus, Focal clonic seizure, Focal to... |
ORPHA:1949 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Abnormality of neuronal migration, Dilated cardiomyopathy, Decreased plasma free carnitine, Hyper... |
OMIM:608836 |
Sialidosis Type 1 |
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Gait disturbance, Skeletal muscle atrophy, Myoclonus, Decreased nerve conduction velocity, Hernia... |
ORPHA:812 |
Pontocerebellar Hypoplasia, Type 2E |
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Facial telangiectasia, Optic atrophy, Cerebellar atrophy, Opisthotonus, Tonic seizure, Infantile ... |
OMIM:615851 |
Charcot-Marie-Tooth Disease Type 1F |
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Impaired proprioception, Paresthesia, Fasciculations, Proximal muscle weakness in upper limbs, So... |
ORPHA:101085 |
Myoclonic Epilepsy Of Infancy |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... |
ORPHA:86909 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Hyperlipidemia, Elevated hepatic transaminase, Hyperglycemia, Impaired pain sensati... |
ORPHA:293987 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Neuraminidase Deficiency |
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Hepatomegaly, Skeletal muscle atrophy, Dysmetria, Myoclonus, Cardiomegaly, Cardiomyopathy, Spleno... |
OMIM:256550 |
African Iron Overload |
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Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Analbuminemia |
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Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Perisylvian polymicrogyria, Impaired temperature sensation, Polyphagia, Small for gestational age... |
ORPHA:98754 |
Primary Lipodystrophy |
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Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, I... |
ORPHA:90970 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Hepatomegaly, Myopathy, Myoclonus, Cardiomyopathy, Decreased liver function, Pachygyria, Hepatic ... |
OMIM:614922 |
Wolfram Syndrome |
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Optic atrophy, Myopathy, Dementia, Abnormality of mesentery morphology, Polydipsia, Cardiomyopath... |
ORPHA:3463 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Perisylvian polymicrogyria, Impaired temperature sensation, Polyphagia, Small for gestational age... |
ORPHA:98793 |
Gitelman Syndrome |
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Prominent U wave, Syncope, Paresthesia, ST segment depression, Raynaud phenomenon, Type I diabete... |
ORPHA:358 |
Citrullinemia, Type Ii, Neonatal-Onset |
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