Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... |
OMIM:608323 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... |
OMIM:162500 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity |
OMIM:618912 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity |
OMIM:612577 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes |
DECIPHER:29 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:610100 |
Parkinsonism With Polyneuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis |
OMIM:606777 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Null Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis |
OMIM:606183 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity |
OMIM:183050 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Decreased moto... |
OMIM:600882 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis |
OMIM:300857 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve co... |
OMIM:618184 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:600361 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity |
ORPHA:352675 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity |
ORPHA:101078 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity |
ORPHA:99939 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:606595 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
ORPHA:101081 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:605726 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity |
OMIM:302802 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity |
OMIM:618404 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de... |
OMIM:614436 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:249900 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity |
ORPHA:101075 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Decreased number of peripheral myelinated nerve... |
OMIM:604563 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, ... |
ORPHA:99953 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... |
ORPHA:139578 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:2928 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Wild Type Abeta2M Amyloidosis |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss |
ORPHA:85446 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity |
OMIM:614932 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
ORPHA:101077 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity |
OMIM:118300 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:607616 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:619851 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Krabbe Disease |
|
Optic atrophy, EEG abnormality, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:245200 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis |
ORPHA:681 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy, Decrease... |
OMIM:162400 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity |
ORPHA:99014 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... |
OMIM:201300 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:603472 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy |
OMIM:618400 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Facial palsy |
OMIM:607684 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity |
ORPHA:99950 |
Rabies |
|
Cerebral palsy, Vocal cord paresis |
ORPHA:770 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... |
OMIM:618620 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity |
OMIM:159550 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity |
OMIM:618356 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601170 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:435387 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior horn cells... |
OMIM:118301 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity |
ORPHA:2926 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Spinocerebellar Ataxia Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:98757 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity |
ORPHA:3115 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity |
OMIM:619862 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity |
OMIM:270685 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... |
OMIM:604320 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude |
ORPHA:90117 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Abnormal motor nerve conduction velocity, Facial palsy |
OMIM:614399 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... |
OMIM:302800 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity |
OMIM:616688 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... |
OMIM:604168 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Decreased nerve conduction velocity |
OMIM:612674 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity |
ORPHA:1933 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Peri... |
OMIM:256840 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Decreased motor nerve conduction velocity |
OMIM:615419 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:619026 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Leukodystrophy, Hypomyelinating, 2 |
|
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Facial palsy |
OMIM:608804 |
Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... |
OMIM:272750 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity |
ORPHA:319514 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy... |
ORPHA:485421 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Axonal degeneration, Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnorma... |
OMIM:602433 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia |
OMIM:603471 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:397744 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Paralysis, Spasticity, Amyotrophic lateral sclerosis |
ORPHA:803 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Decreased nerve conduction velocity |
OMIM:256600 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased ci... |
OMIM:615947 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia |
OMIM:307030 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity |
OMIM:615368 |
Sialidosis Type 1 |
|
EEG abnormality, Decreased nerve conduction velocity |
ORPHA:812 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Abnormality of somatosensory evoked potentials, Abnormal nerve conduction velocity |
ORPHA:98755 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Axonal degeneration/... |
OMIM:601152 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Motor axonal neuropathy |
ORPHA:48431 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Decreased compound muscle action potential amplitude |
OMIM:603511 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity |
OMIM:243000 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity |
ORPHA:329478 |
Paragangliomas 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:250100 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
ORPHA:298 |
Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... |
ORPHA:276244 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Decreased motor nerve conduction velocity |
OMIM:610532 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity |
OMIM:238970 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination |
OMIM:609033 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, EEG abnormality, Decreased nerve conduction velocity, Hypsarrhythmia |
ORPHA:565624 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Progressive spastic paraparesis, Paralysis, Incoordination |
ORPHA:43 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Hand tremor, Babinski sign, Frequent falls, Postural tremor, Vocal ... |
ORPHA:99947 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Decreased mot... |
OMIM:270550 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity |
OMIM:616652 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Sensory axonal neuropathy, Decreased nerve cond... |
OMIM:618733 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:616192 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity |
OMIM:606070 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Spinocerebellar Ataxia 1 |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Optic atr... |
OMIM:164400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity |
OMIM:613640 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Paralysis, Respiratory paralysis |
ORPHA:449285 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158057 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity |
OMIM:603516 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Myoclonus, Paralysis |
ORPHA:83601 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked pot... |
ORPHA:1187 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:101085 |
Machado-Joseph Disease Type 1 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:276241 |
Friedreich Ataxia |
|
Optic atrophy, Decreased amplitude of sensory action potentials, Decreased sensory nerve conducti... |
OMIM:229300 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Optic disc pallor, Decreased motor nerve conduction velocity |
ORPHA:101076 |
Infantile Krabbe Disease |
|
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials |
ORPHA:206436 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased nerve conduct... |
OMIM:609136 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity |
ORPHA:600 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip... |
ORPHA:168563 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Japanese Encephalitis |
|
Hypertonia, Opisthotonus, Respiratory paralysis, Paucity of anterior horn motor neurons, Pill-rol... |
ORPHA:79139 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Decreased nerve conduction velocity |
OMIM:610651 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Decreased nerve conduction velocity |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Decreased nerve conduction velocity |
ORPHA:309263 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation |
ORPHA:320375 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity |
ORPHA:477817 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
Infantile Neuroaxonal Dystrophy |
|
Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, Optic atrophy, Diffus... |
ORPHA:35069 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98855 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Warburg Micro Syndrome 4 |
|
Optic atrophy, Decreased motor nerve conduction velocity |
OMIM:615663 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98853 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormality of peripheral nerves, Abnormal sensory nerve conduction velocity, Axonal degeneration |
ORPHA:88628 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction v... |
ORPHA:309271 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Decreased nerve conduction velocity |
OMIM:614863 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Porphyria, Acute Intermittent |
|
Paralysis, Respiratory paralysis |
OMIM:176000 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co... |
OMIM:615980 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve... |
ORPHA:456312 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Ataxia, Paralysis, Myoclonus |
OMIM:203700 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Decreased amplitude of sensory action potentials, Abnormality of the autonomic nervous system, Mo... |
ORPHA:36386 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Clumsiness, Ankle clonus, Knee clonus, Tongue fasciculations, Vocal cord paralysis |
OMIM:211530 |
Friedreich Ataxia |
|
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy |
ORPHA:95 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Head titubation, Spasticity, Incoor... |
OMIM:301790 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Axonal d... |
ORPHA:909 |
Oculopharyngodistal Myopathy |
|
Paraplegia, Vocal cord paresis |
ORPHA:98897 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
OMIM:214500 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:203800 |
Hyperkalemic Periodic Paralysis |
|
Hypertonia, Cerebral palsy, Periodic hyperkalemic paralysis, Fasciculations |
ORPHA:682 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Hyperlipidemia |
ORPHA:444490 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:79240 |
Poliomyelitis |
|
Paraparesis, Fasciculations, Hyperkinetic movements, Paralysis |
ORPHA:2912 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Ax... |
OMIM:614575 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:370 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:264580 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Vocal cord paralysis |
OMIM:615490 |
Thyrotoxic Periodic Paralysis |
|
Respiratory paralysis, Periodic hypokalemic paresis, Tremor, Paralysis, Tetraplegia |
ORPHA:79102 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity |
OMIM:261515 |
Encephalocraniocutaneous Lipomatosis |
|
Hemiplegia, Hypertonia, Rigidity, Hemiparesis, Spasticity, Paralysis, Tetraplegia |
ORPHA:2396 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Decreased nerve conduction velocity, Optic atrophy, Abnormal aud... |
OMIM:133540 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Decreased nerve conduction velocity, Optic atrophy, Abnormal aud... |
OMIM:216400 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration |
ORPHA:79086 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity |
ORPHA:90658 |
Andersen-Tawil Syndrome |
|
Periodic paralysis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis |
ORPHA:37553 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:606002 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Frequent falls, Vocal cord paresis |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Fasciculations, Vocal cord paresis, Polyminimyoclonus |
OMIM:619574 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... |
ORPHA:470 |
Bickerstaff Brainstem Encephalitis |
|
EEG abnormality, Abnormality of the autonomic nervous system, Decreased motor nerve conduction ve... |
ORPHA:79138 |
Tick-Borne Encephalitis |
|
Hyperkinetic movements, Tremor, Speech apraxia, Paralysis, Incoordination, Tongue fasciculations |
ORPHA:297 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:94080 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc... |
ORPHA:466768 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
ORPHA:280365 |
Chédiak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:167 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity |
ORPHA:512 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Rift Valley Fever |
|
Paraparesis, Paralysis, Decerebrate rigidity, Hemiparesis |
ORPHA:319251 |
Wilson Disease |
|
Decreased nerve conduction velocity |
OMIM:277900 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve cond... |
ORPHA:99949 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Cockayne Syndrome |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:191 |
H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93473 |
Paragangliomas 3 |
|
Vocal cord paralysis |
OMIM:605373 |
Gitelman Syndrome |
|
Ataxia, Paralysis |
OMIM:263800 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Papilledema, Decreased nerve conduction velocity |
ORPHA:580 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Myoclonus, Vocal cord paralysis, Spasticity |
ORPHA:500144 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Periodic hypokalemic paresis |
OMIM:170390 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Absent brainstem auditory responses |
ORPHA:90321 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia |
ORPHA:79259 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis |
ORPHA:142 |
Paragangliomas 1 |
|
Vocal cord paralysis |
OMIM:168000 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential |
OMIM:606071 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia |
ORPHA:1414 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Abnormal circulating lipid concentration... |
ORPHA:77293 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hypertonia, Limb ataxia, Spastic paraplegia, Paralysis, Oculomotor apraxia |
ORPHA:2072 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity |
OMIM:615273 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98908 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:276621 |
Arnold-Chiari Malformation Type I |
|
Babinski sign, Progressive cerebellar ataxia, Vocal cord paralysis, Gait ataxia |
ORPHA:268882 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Vocal cord paralysis, Poor fine motor coordination |
ORPHA:99956 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis |
OMIM:617799 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... |
OMIM:256040 |
African Trypanosomiasis |
|
Hemiparesis, Tremor, Choreoathetosis, Involuntary movements, Paralysis, Fasciculations, Abnormal ... |
ORPHA:3385 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... |
ORPHA:157 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Abnormality of peripheral nerve conduction |
ORPHA:90324 |
Gitelman Syndrome |
|
Paralysis |
ORPHA:358 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:2442 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... |
ORPHA:228308 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperaldosteronism, H... |
ORPHA:189427 |
Glossopharyngeal Neuralgia |
|
Vocal cord paralysis |
ORPHA:221098 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:285 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:29072 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction |
OMIM:601992 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia |
ORPHA:567983 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis |
ORPHA:64744 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232200 |
Mucopolysaccharidosis Type 3 |
|
Hypertonia, Ataxia, Abnormal pyramidal sign, Vocal cord paresis, Spasticity |
ORPHA:581 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis |
ORPHA:91347 |
Feingold Syndrome 1 |
|
Vocal cord paralysis |
OMIM:164280 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232220 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Abnormality of peripheral nerve conduction |
OMIM:302900 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormality of peripheral nerve conduction,... |
ORPHA:642 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Unilateral vocal cord paralysis, Spasticity |
OMIM:301030 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis |
ORPHA:324540 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232240 |
Schinzel-Giedion Syndrome |
|
Hypertonia, Vocal cord paralysis, Spasticity |
ORPHA:798 |
Codas Syndrome |
|
Vocal cord paresis |
OMIM:600373 |
Friedreich Ataxia And Congenital Glaucoma |
|
Decreased amplitude of sensory action potentials |
OMIM:229310 |
Degcags Syndrome |
|
Vocal cord paralysis |
OMIM:619488 |
Esophageal Atresia |
|
Hypertonia, Vocal cord paresis |
ORPHA:1199 |
Choreoacanthocytosis |
|
Decreased amplitude of sensory action potentials, Decreased number of peripheral myelinated nerve... |
ORPHA:2388 |
Williams-Beuren Syndrome |
|
Incoordination, Vocal cord paralysis, Poor coordination |
OMIM:194050 |
Alström Syndrome |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |