Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... |
DECIPHER:29 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Soma... |
OMIM:612577 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration, Seizure |
OMIM:613068 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... |
OMIM:617672 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Athetosis |
OMIM:300857 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy |
OMIM:608030 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... |
OMIM:253400 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy... |
OMIM:105550 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog... |
ORPHA:95434 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616437 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Demyelinating motor neuropathy, Decr... |
ORPHA:206594 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Optic neuritis, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination |
OMIM:165200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment, Pro... |
OMIM:604484 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Neurodegeneration, Motor... |
ORPHA:803 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Null Syndrome |
|
Ataxia, Abnormal cerebellum morphology, Demyelinating peripheral neuropathy, Decreased nerve cond... |
ORPHA:280234 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... |
ORPHA:65684 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor n... |
OMIM:302800 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Developmental And Epileptic Encephalopathy 14 |
|
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
OMIM:614959 |
Krabbe Disease |
|
Hypertonia, Failure to thrive, Decreased nerve conduction velocity, Decerebrate rigidity, Autoimm... |
OMIM:245200 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... |
OMIM:606070 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Cerebral cortical atrophy, Limb ataxia, Degeneration of anterior horn cells, Basal gangli... |
OMIM:607596 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Favorable response of weakness to acetylcholine esterase inhibitors, Fatigab... |
ORPHA:353327 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Seizure |
OMIM:604218 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Short stature, Intention tremor, Bab... |
ORPHA:397946 |
Huntington Disease |
|
Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Seizure |
OMIM:143100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Sin... |
OMIM:613179 |
Immunodeficiency 54 |
|
Intrauterine growth retardation, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomeg... |
OMIM:609981 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... |
ORPHA:208981 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... |
ORPHA:276 |
Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Cere... |
ORPHA:1320 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Abnormal upper motor neuron morphology |
ORPHA:247604 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Flexion contracture, Degeneration of anterior horn cells, Spinal mus... |
OMIM:301830 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Gliosis, Cerebral atrophy, Gait ataxia, Cerebellar atrophy |
OMIM:618369 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... |
OMIM:601098 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Lymphopenia, Short stature, Tremor, Decreased circulating antibody lev... |
ORPHA:100 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... |
ORPHA:497764 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612069 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... |
ORPHA:275872 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnorm... |
OMIM:614561 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Neurogenic bladder |
OMIM:615911 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... |
OMIM:611067 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Distal sensory impairment, Abnormal upper motor neuron morphology, Pares... |
OMIM:263570 |
Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Optic neuritis, Myelitis, Paraplegia, Peripheral demyeli... |
ORPHA:71211 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Paraparesis, Hepatomegaly, Leukodystrophy, Hepatosplenomegaly, Hemiparesis, Absence of lymph node... |
ORPHA:79124 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Short stature, Decreas... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Parkinsonism, Chorea, Involuntary movements, Weight loss, Caudate atro... |
ORPHA:98934 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Cerebral atrophy, Myoclonus, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... |
OMIM:614946 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyelination, Spastic tetra... |
OMIM:249900 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... |
ORPHA:1145 |
Diaminopentanuria |
|
Neurodegeneration, Seizure |
OMIM:222350 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination |
DECIPHER:59 |
Hemimegalencephaly |
|
Status epilepticus, Focal motor seizure, Gliosis, Atonic seizure, Myoclonus, Epileptic spasm, Sei... |
ORPHA:99802 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Spastic ataxia, Spastic paraparesis |
OMIM:613672 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atrophy, EMG: myopathic abnormali... |
ORPHA:52430 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... |
OMIM:605809 |
Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Fatigable weakness, Prolonged miniature endplate currents, Limb musc... |
OMIM:603034 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Pancreatitis, Hepatomegaly, Leukopenia, Tetraparesis, Optic atrophy, Macrocy... |
ORPHA:27 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Optic atrophy, Tremor, Abnormal nerve conduction velocity |
ORPHA:99014 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia, Optic atro... |
OMIM:615035 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Distal amyotrophy, Skelet... |
OMIM:608627 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Progressive distal muscular atrophy, Spinal muscular atrophy... |
OMIM:159950 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... |
OMIM:254210 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spasticity, A... |
OMIM:221770 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
Mast Syndrome |
|
Abnormal cerebellum morphology, Spastic paraparesis, Babinski sign, Spastic paraplegia, Apraxia |
OMIM:248900 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Corpus callosum atrophy, Seizure, Global brain ... |
OMIM:221820 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity |
OMIM:611105 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Hypertonia, Clumsiness, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Slu... |
ORPHA:2386 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Spinocerebellar atrophy, Distal amyotrophy, Gait ataxia, Abnormal upper motor neuron morp... |
OMIM:215470 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Babinski sign |
OMIM:300660 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Gliosis, Decreased nerve conduction velocity, Trophic limb changes, Ort... |
OMIM:118301 |
Adult Krabbe Disease |
|
Hemiplegia, Ataxia, Clumsiness, Abnormal pons morphology, Hoffmann sign, Babinski sign, Abnormal ... |
ORPHA:206448 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Seizure |
OMIM:613002 |
Spinocerebellar Ataxia Type 25 |
|
Abnormal cerebellar cortex morphology, Decreased number of large peripheral myelinated nerve fibe... |
ORPHA:101111 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stabilit... |
OMIM:600546 |
Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Abnormal upper motor neuron morphology, Spasticity of facial muscles |
OMIM:606353 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Frequent falls, Onion bulb formation |
OMIM:618279 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... |
ORPHA:100024 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Lymphadenopathy |
ORPHA:70482 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Neuronal loss in central nervous system, Gliosis, Generalized myoclonic seizure, Myoclonic spasms... |
OMIM:614498 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Voca... |
OMIM:162500 |
Machado-Joseph Disease Type 3 |
|
Progressive cerebellar ataxia, Degeneration of anterior horn cells, Abnormal lower motor neuron m... |
ORPHA:276244 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Decreased miniature endplate potentials |
OMIM:616321 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia |
ORPHA:101005 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Fatigable weakness, Hand muscle atrop... |
OMIM:601462 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Dystonia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... |
OMIM:607483 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... |
ORPHA:100070 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Failure to thrive, Short stature, Bone marrow hypocellulari... |
OMIM:605724 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... |
ORPHA:101097 |
N Syndrome |
|
Cryptorchidism, Leukemia, Spasticity, Abnormality of chromosome stability |
OMIM:310465 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Poor fine motor coordination, Spastic paraparesis, Babinski sign, Spasticity, Spastic gait |
ORPHA:320370 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Ataxia, Short stature, Chromosomal breakage induced by ionizing radiation, Spasticity, Growth delay |
OMIM:613078 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of neck muscles, Triceps weakness, Shoulder girdle muscle weakness, EMG: myopa... |
ORPHA:98913 |
Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Short stature |
ORPHA:2815 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy, Generalized myoclonic seizure |
OMIM:610951 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Spastic paraparesis |
OMIM:182610 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability |
OMIM:614082 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Tremor, Increased hepatocellular lip... |
OMIM:220111 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
Spinocerebellar Ataxia 17 |
|
Neuronal loss in central nervous system, Gliosis, Ataxia, Limb ataxia, Dysmetria, Positive Romber... |
OMIM:607136 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Decreased body weight, Cerebral atrophy, Short stature, Myoclonus, Cerebellar ... |
OMIM:619060 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Cerebral atrophy, Paucity of anterior horn motor neurons, Abnormal anterior horn... |
OMIM:611890 |
Pontocerebellar Hypoplasia, Type 4 |
|
Myoclonus, Gliosis, Seizure |
OMIM:225753 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affectin... |
OMIM:617862 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Retrocollis, Hand muscle atrophy, Spasticity of facial mus... |
OMIM:205100 |
Hodgkin Lymphoma |
|
Ataxia, Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Hepatic fibrosis, Spasti... |
OMIM:616719 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Status epilepticus, Gliosis, Myoclonic seizure, Abnormal astrocyte morphology, Cerebellar atrophy... |
ORPHA:168486 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis, Cerebral atrophy, Cerebellar atrophy, Small for gestational age |
OMIM:615095 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Cerebellar atrophy, Seizure |
OMIM:612936 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic ... |
ORPHA:100083 |
Multiple Sulfatase Deficiency |
|
Ataxia, Hepatomegaly, Cerebral atrophy, Splenomegaly, Short stature, Spasticity, Cerebellar atrop... |
OMIM:272200 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Progressive spastic paraparesis, Cerebellar atrophy,... |
ORPHA:496756 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, CNS... |
OMIM:616494 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Ankle clonus, Knee clonus, Babinski sign, Spastic paraplegia, ... |
OMIM:604360 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Dysmetria, Limb ataxia, Gait ataxia |
OMIM:213200 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Postnatal growt... |
OMIM:609054 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Demyelinating motor neuropathy, Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressiv... |
ORPHA:506353 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita, Decreased miniatur... |
OMIM:608930 |
Leukodystrophy, Hypomyelinating, 3 |
|
Failure to thrive, Spastic paraparesis, Leukodystrophy, Sudanophilic leukodystrophy, Abnormal pyr... |
OMIM:260600 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic eventration, Degeneration... |
OMIM:604320 |
Juvenile Huntington Disease |
|
Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidi... |
ORPHA:248111 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... |
OMIM:615362 |
Galloway-Mowat Syndrome 5 |
|
Brain atrophy, Ataxia, Spasticity, Peripheral demyelination |
OMIM:617731 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity |
OMIM:302802 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis, Corpus callosum atrophy, Cerebellar atrophy, Seizure, Global brain atrophy |
OMIM:236792 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Cerebral atrophy, Spastic paraparesis, Demyelinating motor neuropathy, Intention tremor, ... |
OMIM:608804 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Metachromatic Leukodystrophy |
|
Ataxia, Gallbladder dysfunction, Decreased nerve conduction velocity, Babinski sign, Chorea, Chol... |
OMIM:250100 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... |
OMIM:607317 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice |
ORPHA:79238 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Cerebellar atrophy |
OMIM:615945 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Short stature, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor,... |
OMIM:612438 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Intrauterine growth retardation, Peripheral demyelination, Small fo... |
OMIM:616733 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... |
ORPHA:444463 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... |
OMIM:610245 |
Gaucher Disease, Type Iii |
|
Ataxia, Decreased body weight, Hepatomegaly, Spastic paraparesis, Splenomegaly, Short stature, My... |
OMIM:231000 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Fatigable weakness, Increased variabil... |
ORPHA:2593 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
Peroxisome Biogenesis Disorder 8B |
|
Failure to thrive, Ataxia, Cerebellar vermis atrophy, Spastic paraparesis, Dysmetria, Leukodystro... |
OMIM:614877 |
Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Pseudopapilledema, Tetraparesis, Paralysis |
ORPHA:140989 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Myoclonus, Abnor... |
OMIM:615924 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebral cortical atrophy, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Pontocereb... |
ORPHA:171629 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... |
ORPHA:277 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Gait ataxia, Peripheral demyelination |
OMIM:258650 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... |
OMIM:615157 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy |
OMIM:311070 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Neurodegeneration, T... |
OMIM:300894 |
Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Abnormal autonomic nervous system physiology, Lim... |
OMIM:109150 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Cerebral dysmyelination, Ataxia, Dysmyelinating leukodystrophy, Demyelinating periph... |
OMIM:609136 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Lower-limb joint contracture, Muscle fiber atrophy, Upper-... |
ORPHA:300605 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... |
OMIM:607458 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Arthritis, Infectious encephalitis, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Cerebellar atrophy |
ORPHA:423296 |
Sporadic Creutzfeldt-Jakob Disease |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Astrocytosis |
ORPHA:204 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Spasticity |
OMIM:617854 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Gr... |
OMIM:619164 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Cerebral atrophy, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosi... |
OMIM:612126 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Neurodegeneration, Cerebellar... |
OMIM:256600 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:609311 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... |
ORPHA:545 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis, Seizure |
ORPHA:357225 |
Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal cerebellum morphology, Truncal titubation, Intention tremor, Leukodystrophy, Onion bulb ... |
OMIM:610532 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Pauci... |
OMIM:253310 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski ... |
OMIM:270500 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar... |
ORPHA:33445 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... |
OMIM:619924 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Gliosis, Brain atrophy, Small for gestational age, Neurodegeneration, Diffuse ... |
OMIM:214150 |
Spinocerebellar Ataxia Type 40 |
|
Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocerebellar atrophy, Ga... |
ORPHA:423275 |
Aicardi-Goutieres Syndrome 6 |
|
Leukodystrophy, Rigidity, Hemolytic anemia, Tremor, Dystonia |
OMIM:615010 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Rigidity, Neurodegeneration, Spastic t... |
OMIM:615643 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Weigh... |
ORPHA:33355 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Decreased number of large peripheral mye... |
OMIM:270550 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Abnormal cerebellum morphology, Upper limb spasticity, Spastic paraparesis, Dysmetria, Short stat... |
OMIM:275900 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Abnormal cerebellum morphology... |
ORPHA:98762 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Farber Disease |
|
Paraparesis, Failure to thrive, Brain atrophy, Short stature, Myoclonus, Hepatosplenomegaly, Thro... |
ORPHA:333 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocerebellar atrophy |
OMIM:616053 |
Abetalipoproteinemia |
|
Ataxia, Acanthocytosis, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Classic Hodgkin Lymphoma |
|
Ataxia, Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphade... |
ORPHA:391 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Abnormal cerebellum morphology, Pseudobulbar paralysis, Leukodystrophy, Babinski sign, Co... |
OMIM:169500 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Cerebell... |
OMIM:616239 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Postnat... |
ORPHA:391417 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decreased number of periphe... |
OMIM:600882 |
Immunodeficiency 64 |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgA level, Defective T ... |
OMIM:618534 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Optic atrophy, Tremo... |
ORPHA:329284 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism... |
ORPHA:521406 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:616187 |
Glutaric Acidemia I |
|
Failure to thrive, Delayed myelination, Hepatomegaly, Opisthotonus, Spastic diplegia, Rigidity, C... |
OMIM:231670 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration of anterior horn cells... |
OMIM:271225 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
Rhabdoid Tumor |
|
Hemiplegia, Neoplasm of the liver, Cerebral palsy, Thrombocytopenia, Weight loss, Anemia, Lymphad... |
ORPHA:69077 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Short stature, Abnormal pyramidal sign, Optic atrophy, Tremor, Incoordination, Obesity |
OMIM:614947 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Optic atrophy, Cerebellar atrophy |
OMIM:210000 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadoc... |
ORPHA:313772 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Ce... |
OMIM:616291 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Dystonia, Babinski sign, Spastic dysarthria, Spastic paraplegia, Tremor,... |
ORPHA:251282 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... |
OMIM:607271 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Cerebral atrophy, Leukodystrophy, Decreased motor nerve conduction velocity... |
OMIM:619851 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Failure to thrive, Dystonia |
OMIM:619651 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... |
OMIM:618184 |
Gabriele-De Vries Syndrome |
|
Delayed myelination, Tremor, Cryptorchidism, Intrauterine growth retardation, Dystonia |
OMIM:617557 |
Ane Syndrome |
|
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy |
ORPHA:157954 |
Huntington Disease-Like 1 |
|
Gliosis, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Weight loss |
ORPHA:157941 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslin... |
OMIM:617243 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
Adducted Thumbs Syndrome |
|
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita |
OMIM:201550 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:610100 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Apla... |
OMIM:610185 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal ... |
ORPHA:507 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Ataxia, Decreased circulating IgA level, Chromosome breakage, Abnormality of chromosome stability... |
OMIM:208910 |
Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Ataxia, Cerebellar vermis atrophy, Failure to thrive, Short stature, Int... |
OMIM:312080 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Small for gestational age, Increased body mass index, Truncal obesity, Seizure |
OMIM:300957 |
Adrenoleukodystrophy |
|
Paraparesis, Limb ataxia, Truncal ataxia, Neurodegeneration, Spastic paraplegia, Incoordination, ... |
OMIM:300100 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerve conduction veloci... |
ORPHA:101077 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Ataxia, Osteomyelitis leading to amputation due to slow healing fractures, Hep... |
OMIM:256810 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Lower limb muscle weakness |
ORPHA:2590 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebral cortical atrophy, Dysmetria, Short stature, Leukodystrophy, Babinski sign, Optic... |
OMIM:607694 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Ataxia, Cerebral atrophy, Short stature, Delayed peripheral myelination, Progressive spastic para... |
ORPHA:464282 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Status epilepticus, Gliosis, Cerebral atrophy, Small for gestational age, Myoclonus, Febrile seiz... |
OMIM:619847 |
Huntington Disease |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Myoclonus, Babinski sig... |
ORPHA:399 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Tremor, Spasticity, Growth delay |
OMIM:278780 |
Riddle Syndrome |
|
Ataxia, Clumsiness, Demyelinating peripheral neuropathy, Decreased circulating IgA level, Decreas... |
ORPHA:420741 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging |
ORPHA:3417 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Limb ataxia, Axonal degener... |
OMIM:208920 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria |
OMIM:612437 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Olivopontocerebellar atrophy, Op... |
OMIM:164500 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Status epilepticus, Failure to thrive, Neuronal loss in central nervous system, Gliosis, Myoclonu... |
OMIM:203700 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gliosis, Cerebral atrophy, Cerebellar gliosis, Small for gestational age, Infantile spasms, Basal... |
ORPHA:79243 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Ovarian neoplasm, Chromosome breakage, Short stature, Anemia |
OMIM:617883 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Degeneration of the lateral corticospinal tracts, Clon... |
OMIM:600363 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Cerebral cortical atrophy, Optic atrophy, Tremor, Spasticity, Delayed CNS myelination |
OMIM:300983 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Opt... |
ORPHA:254343 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
Cerebrotendinous Xanthomatosis |
|
Paraparesis, Cholelithiasis, Ataxia, Hypermyelinated retinal nerve fibers, Axonal degeneration, B... |
ORPHA:909 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Opti... |
OMIM:609053 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopen... |
OMIM:601457 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Parkinsonism, Periphera... |
ORPHA:2822 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Lymphangioma |
ORPHA:53721 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Osteomye... |
OMIM:162400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis, Seizure |
OMIM:608033 |
4H Leukodystrophy |
|
Ataxia, Decreased response to growth hormone stimulation test, Dysmetria, Short stature, Dysdiado... |
ORPHA:289494 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth ven... |
OMIM:614831 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... |
ORPHA:79263 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Seizure |
OMIM:603896 |
Pseudomyxoma Peritonei |
|
Weight loss, Lymphadenopathy, Inflammation of the large intestine, Abnormality of the peritoneum |
ORPHA:26790 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Peripheral axonal neuropathy, Tremor, Gait ataxia, Cerebellar atrophy |
OMIM:618387 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Ataxia, Decreased sensory nerve conduction velocity, Peripheral demyelination |
OMIM:609033 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Arthritis |
ORPHA:139436 |
Leigh Syndrome |
|
Failure to thrive, Gliosis, Seizure |
OMIM:256000 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... |
OMIM:617435 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Short stature, Myoclonus, C... |
OMIM:617284 |
Developmental And Epileptic Encephalopathy 82 |
|
Decreased body weight, Cerebral atrophy, Spastic paraparesis, Short stature, Cerebellar vermis hy... |
OMIM:618721 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... |
ORPHA:3226 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... |
OMIM:601455 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Felty Syndrome |
|
Sinusitis, Rhinitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morpho... |
ORPHA:47612 |
Lig4 Syndrome |
|
Hepatomegaly, Leukocytosis, Pancytopenia, Growth delay, Cryptorchidism, Lymphadenopathy, Acute le... |
ORPHA:99812 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness, Impai... |
OMIM:601162 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Spastic paraparesis, Dysmetria, Babinski sign, Corpus callosum atrophy, Spastic dysarthria, Optic... |
OMIM:616680 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Gliosis, Overweight, Seizure |
ORPHA:457240 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Progressive cerebellar ataxia, Sensory ataxia... |
ORPHA:99857 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Short stature, Abnormality of the lymphat... |
ORPHA:47 |
Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Gliosis, Abnormal synaptic transmission, Cerebral cortic... |
ORPHA:683 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Intention tremor, Leukodystrophy, Dy... |
OMIM:614381 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Short stature, Biliary atresia, Bone marrow hypocellularity, Growth delay |
OMIM:615272 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Spinocerebellar Ataxia 25 |
|
Ataxia, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy... |
OMIM:608703 |
Wilson Disease |
|
Failure to thrive, Clumsiness, Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic st... |
ORPHA:905 |
Meige Disease |
|
Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of lymph node germinal center... |
ORPHA:90186 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Abnormal CNS myelination |
ORPHA:477673 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Optic atrophy, Spasticity, Delayed CNS myelination, Spastic tetraparesis, Pericardi... |
OMIM:619487 |
Thymic Carcinoma |
|
Weight loss, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Neoplasm of the thymus |
ORPHA:99868 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypertonia, Cerebral atrophy, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Growth delay, ... |
OMIM:252160 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Chiari type I malformation, Dystonia |
OMIM:617836 |
Pontocerebellar Hypoplasia, Type 2A |
|
Gliosis, Cerebral cortical atrophy, Chorea, Optic atrophy, Congenital contracture |
OMIM:277470 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Short stature, Tremor |
ORPHA:1368 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Dilated fourth ventricle, Tremor, Di... |
ORPHA:1170 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Progressive spastic paraparesis,... |
ORPHA:444099 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Poor gross motor coordination, Decreased number of large peripheral my... |
ORPHA:99948 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy |
OMIM:612016 |
Myopathy With Extrapyramidal Signs |
|
Growth delay, Ataxia, Clumsiness, Hepatomegaly, Leukocytosis, Splenomegaly, Peripheral axonal neu... |
OMIM:615673 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Progressive spastic paraparesis, Paralysis, Incoordination |
ORPHA:43 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Recurrent hand flapping, Congenital macroorchidism, Folate-dependen... |
OMIM:300624 |
Fragile X Syndrome |
|
Sinusitis, Cerebral cortical atrophy, Otitis media, Folate-dependent fragile site at Xq28, Chroni... |
ORPHA:908 |
Poliomyelitis |
|
Paraparesis, Hyperkinetic movements, Myelitis, Abnormal motor nerve conduction velocity, Paralysi... |
ORPHA:2912 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Cryptorchidism, Decreased response to growth hormone stimulation test, Short s... |
OMIM:603467 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Co... |
ORPHA:77297 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, ... |
ORPHA:83469 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Neuronal loss in central nervous system, Gliosis, Dysmetria, Optic atrophy, Optic disc pallor, Ce... |
OMIM:301790 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cerebral cortical atrophy, Cachexia, Myoclonus, Tremor, Optic disc pallor, Abnormal crani... |
ORPHA:97229 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Synaptic Congenital Myasthenic Syndromes |
|
Abnormal synaptic transmission at the neuromuscular junction, Hand muscle weakness, Right ventric... |
ORPHA:98915 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Seizure, C... |
OMIM:602613 |
Revesz Syndrome |
|
Hypertonia, Ataxia, Aplastic anemia, Cerebellar hypoplasia, Bone marrow hypocellularity, Intraute... |
OMIM:268130 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Neuroendocrine neoplasm, Chronic noninfectious ly... |
ORPHA:97289 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:252320 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Ataxia, Failure to thrive, Severe demyelination of the white matter, Poor f... |
ORPHA:79282 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Cerebral cortical atrophy, Hepatomegaly, Decreased nerve conduction velocity, ... |
OMIM:238970 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormality of the peritoneum |
ORPHA:2023 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Cerebellar atr... |
OMIM:614487 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Delayed menarche, Oculogyric crisis, Optic atrophy, Tremor, Diffuse cerebral atrophy, Cerebellar ... |
ORPHA:330050 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Limb hypertonia, Pneumonia, Pancytopenia, Spastic tetraparesis, Weight loss, Lower ... |
OMIM:615846 |
Pleural Mesothelioma |
|
Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Cerebellar hypoplasia, Patent ductus arteriosus, Delayed CNS myelination, Growth... |
OMIM:300514 |
Christianson Syndrome |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Cachexia, T... |
ORPHA:85278 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Igg4-Related Pachymeningitis |
|
Paraparesis, Sinusitis, Pancreatitis, Nephritis, Eosinophilia, Lymphadenitis, Increased circulati... |
ORPHA:449427 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait ataxia, Spasticity, Cerebellar atro... |
OMIM:617810 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Recurrent skin infections, Short stature, Tre... |
OMIM:617744 |
Kaposi Sarcoma |
|
Skin rash, Abnormality of the spleen, Generalized lymphadenopathy, Weight loss, Abnormality of th... |
ORPHA:33276 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Dysmyelinating leukodystrophy, Clumsiness, Progressive cerebellar ataxia, Poor fine m... |
ORPHA:137898 |
Rift Valley Fever |
|
Paraparesis, Skin rash, Decerebrate rigidity, Hemiparesis, Increased circulating IgG level, Hepat... |
ORPHA:319251 |
Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Hepatomegaly, Short stature |
ORPHA:2576 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Neuronal loss in central nervous system, Gliosis, Generalized tonic seizure, Epileptic spasm, Atr... |
OMIM:617193 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Abnormal pyramidal sign, Sensory axonal neuropathy, Spastic parap... |
OMIM:256850 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity |
OMIM:619028 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Ataxia, Brain atrophy, Cerebral atrophy, Short stature, Limb hypertonia, Myocl... |
ORPHA:442835 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
Perry Syndrome |
|
Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity |
OMIM:615284 |
Icf Syndrome |
|
Lymphopenia, Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Ane... |
ORPHA:2268 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss, Cerebral cortical atrophy, Abnormal eosinophil morphology |
ORPHA:1164 |
Inherited Creutzfeldt-Jakob Disease |
|
Senile plaques, Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ... |
ORPHA:282166 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Cerebellar atrophy, Dysmetria |
OMIM:617917 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Cerebral atrophy, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Spastic tetraparesis, Grow... |
OMIM:252150 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Growth delay, Parkinsonism, Hyperkinetic movements, Chorea, Tr... |
OMIM:619738 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypertonia, Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Athetosis, Optic atrophy, Tremo... |
OMIM:617710 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Gait ataxia, Cachexia |
OMIM:612075 |
3-Methylglutaconic Aciduria, Type Viii |
|
Hypertonia, Cerebral atrophy, Tremor, Neutropenia, Growth delay, Dystonia |
OMIM:617248 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Dy... |
ORPHA:139485 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hypertonia, Abnormal peripheral myelination, Brain atrophy, Tongue tremor, Atopic dermatitis, Bab... |
ORPHA:466768 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Hypertonia, Ataxia, Failure to thrive, Cerebellar hypoplasia, Tremor, Delayed CNS myelination |
OMIM:619556 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Arnold-Chiari Malformation Type Ii |
|
Paraparesis, Ataxia, Opisthotonus, Abnormal medulla oblongata morphology, Paraplegia, Spasticity,... |
ORPHA:1136 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ataxia, Weight loss |
OMIM:613662 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem, Seizure |
OMIM:612319 |
Bilateral Perisylvian Polymicrogyria |
|
Paraparesis, Facial diplegia, Pseudobulbar paralysis, Dysmetria, Limb hypertonia, Oromotor apraxi... |
ORPHA:98889 |
Lissencephaly, X-Linked, 2 |
|
Gliosis, Seizure |
OMIM:300215 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Chromosome breakage, Short stature |
OMIM:613390 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Otitis media, Leukodystrophy, Tics, Spasticity, Intrauterine growth ret... |
OMIM:619475 |
Bloom Syndrome |
|
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Chromosome breaka... |
OMIM:210900 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
|