Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Pallor of dorsal ... |
OMIM:602433 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Gait disturbance, Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Distal ... |
OMIM:604484 |
Familial Infantile Bilateral Striatal Necrosis |
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Atrophy/Degeneration involving the caudate nucleus, Gait disturbance, Choreoathetosis, Basal gang... |
ORPHA:225154 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Hypoplasia of the pons, Fasciculations, Basal ganglia gliosis, At... |
OMIM:607596 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... |
OMIM:256600 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fascicu... |
OMIM:608030 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... |
OMIM:615157 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ability to walk, Amyotrophic lateral sclerosis |
OMIM:615515 |
Spinocerebellar Ataxia 13 |
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Optic atrophy, Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Morphological a... |
OMIM:605259 |
Spinocerebellar Ataxia 10 |
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Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Decreased nerve cond... |
OMIM:603516 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
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Dystonia, Babinski sign, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... |
OMIM:205100 |
Progressive Non-Fluent Aphasia |
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Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... |
ORPHA:100070 |
L-2-Hydroxyglutaric Aciduria |
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Optic atrophy, Cerebellar atrophy, Global brain atrophy, Gliosis, Leukoencephalopathy, Abnormalit... |
OMIM:236792 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
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Babinski sign, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Cerebral cortical atrophy |
OMIM:615911 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal d... |
OMIM:105550 |
Huntington Disease-Like 3 |
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Dystonia, Caudate atrophy, Chorea, Abnormality of extrapyramidal motor function, Frontal cortical... |
OMIM:604802 |
Amyotrophic Lateral Sclerosis 1 |
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Degeneration of the lateral corticospinal tracts, Pseudobulbar paralysis, Amyotrophic lateral scl... |
OMIM:105400 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
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Degeneration of anterior horn cells, Corticospinal tract pallor, Astrocytosis, Cerebral atrophy |
OMIM:600333 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Babinski sign, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphol... |
OMIM:602099 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Athetosis, Dystonia, Paralysis, Axonal loss, Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
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Gait disturbance, Babinski sign, Abnormal astrocyte morphology, Leukoencephalopathy, Tremor, Tip-... |
ORPHA:83629 |
Sporadic Creutzfeldt-Jakob Disease |
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Babinski sign, Neuronal loss in central nervous system, Gliosis, Myoclonus, Abnormality of extrap... |
ORPHA:204 |
Adult Krabbe Disease |
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Clumsiness, Peripheral demyelination, Hemiplegia, Somatic sensory dysfunction, Gait disturbance, ... |
ORPHA:206448 |
Huntington Disease-Like 2 |
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Involuntary movements, Gait disturbance, Abnormal corpus striatum morphology, Dystonia, Caudate a... |
ORPHA:98934 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
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Spasticity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper... |
OMIM:614373 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Steppage gait, Gait disturbance, Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
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Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... |
ORPHA:329228 |
Amyotrophic Lateral Sclerosis 8 |
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Postural tremor, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fascicul... |
OMIM:608627 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
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Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking |
ORPHA:363432 |
Spinocerebellar Ataxia 8 |
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Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Morphologi... |
OMIM:608768 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Dystonia, Gait disturbance, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... |
OMIM:600795 |
Spastic Paraplegia 2, X-Linked |
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Optic atrophy, Degeneration of the lateral corticospinal tracts, Babinski sign, Dysmetria, Spasti... |
OMIM:312920 |
Amyotrophic Lateral Sclerosis 11 |
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Amyotrophic lateral sclerosis, Upper motor neuron dysfunction |
OMIM:612577 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... |
OMIM:606482 |
Inherited Creutzfeldt-Jakob Disease |
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Clumsiness, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis... |
ORPHA:282166 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... |
DECIPHER:29 |
Gerstmann-Straussler-Scheinker Syndrome |
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Acroparesthesia, Limb myoclonus, Paresthesia, Abnormality of extrapyramidal motor function, Morph... |
ORPHA:356 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Abnormal lower... |
ORPHA:95434 |
Spinal Muscular Atrophy, Type Iv |
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Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells |
OMIM:271150 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Dystonia, Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leukoencephalop... |
OMIM:615889 |
Frontotemporal Dementia With Motor Neuron Disease |
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Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... |
ORPHA:275872 |
Monomelic Amyotrophy |
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Abnormality of peripheral nerve conduction, Tremor, Fasciculations, Degeneration of anterior horn... |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Type 4A |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Steppage gait, Motor axonal neuropathy, Facial palsy, Abnormal pyramidal sign, Sensory axonal neu... |
OMIM:256850 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity |
OMIM:611895 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy,... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy,... |
OMIM:616437 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Babinski sign, Amyotrophic lateral sclerosis, Lower limb spasticity, Fasciculations, Ankle clonus... |
OMIM:613954 |
Spastic Paralysis, Infantile-Onset Ascending |
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Babinski sign, Spastic tetraplegia, Tetraplegia, Morphological abnormality of the corticospinal t... |
OMIM:607225 |
Spinal Muscular Atrophy, Type Iii |
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Limb fasciculations, Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells |
OMIM:253400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Clonus, Poor coordination, Failure to thrive, Decreased nerve conduction velocity, Impaired vibra... |
OMIM:238970 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
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Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy |
OMIM:615268 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Tongue fasciculations |
OMIM:613435 |
Juvenile Amyotrophic Lateral Sclerosis |
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Oromandibular dystonia, Clonus, Opisthotonus, Amyotrophic lateral sclerosis, Hypertonia, Microcep... |
ORPHA:300605 |
Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells |
OMIM:253550 |
Autosomal Dominant Spastic Paraplegia Type 8 |
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Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Upper limb spasticity, S... |
ORPHA:100989 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Difficult... |
OMIM:159950 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Juvenile Huntington Disease |
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Dystonia, Cerebellar atrophy, Neuronal loss in basal ganglia, Rigidity, Chorea, Weight loss, Myoc... |
ORPHA:248111 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Obesity, Spastic ga... |
OMIM:604360 |
Autosomal Dominant Spastic Paraplegia Type 37 |
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Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Spastic gait, Spinal cor... |
ORPHA:171612 |
Behavioral Variant Of Frontotemporal Dementia |
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Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Astrocytosis, Ste... |
ORPHA:275864 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Amyotrophic lateral sclerosis, Spasticity, Stereotypy |
OMIM:612069 |
Autosomal Dominant Spastic Paraplegia Type 19 |
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Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... |
ORPHA:100999 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... |
ORPHA:444099 |
Camos Syndrome |
|
Optic atrophy, Progressive extrapyramidal movement disorder, Ataxia, Aplasia/Hypoplasia of the ce... |
ORPHA:83472 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:615957 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Cerebellar atrophy, Axonal loss, Rigidity, Neurodegeneration, Peripheral ... |
OMIM:617672 |
Frontotemporal Dementia |
|
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Autosomal Dominant Spastic Paraplegia Type 42 |
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Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cor... |
ORPHA:171863 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, Spastic g... |
OMIM:603563 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... |
OMIM:600363 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Failure to thrive, Falls, Axonal degeneration, Tongue fasciculations |
OMIM:618811 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... |
OMIM:604168 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Gait disturbance, Dystonia, Temporal cortical atrophy, Amyotrophic lateral sclerosis, Facial pals... |
OMIM:167320 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Optic atrophy, Degeneration of the lateral corticospinal tracts, Cerebellar atrophy, Babinski sig... |
OMIM:607259 |
Dystonia 9 |
|
Dystonia, Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodi... |
OMIM:601042 |
Machado-Joseph Disease Type 3 |
|
Clumsiness, Dystonia, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Dilated fo... |
ORPHA:276244 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Paraplegia, Spastic gait, Lower ... |
OMIM:182600 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Morphological abnormality of the pyramidal tract, Abnormal pyramidal sign |
OMIM:301840 |
Dystonia 16 |
|
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... |
OMIM:612067 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Corticospinal tract atrophy, Ataxia |
OMIM:551500 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cord lesion... |
ORPHA:171617 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity, Abnormal cerebral white ... |
OMIM:618138 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Motor axonal neur... |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, Inability to walk, Broad... |
OMIM:615490 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Facial palsy, Truncal ti... |
OMIM:607483 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Morphol... |
OMIM:613135 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Cerebellar atrophy, Lower limb spasticity, Iron ... |
OMIM:619389 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Diaphragmatic paralysis, Small for gestational age, Failure to th... |
OMIM:604320 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... |
OMIM:610245 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Gait disturbance, Abnormality of the spinal cord, Axonal degeneration, T... |
ORPHA:88628 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia |
OMIM:618369 |
Dystonia 32 |
|
T2 hypointense basal ganglia, Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia |
OMIM:619637 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy |
OMIM:610951 |
Primary Lateral Sclerosis, Adult, 1 |
|
Babinski sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Abnormal upper motor neuro... |
OMIM:611637 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis atrophy, Cerebellar vermis h... |
OMIM:117360 |
Focal Cortical Dysplasia, Type Ii |
|
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, H... |
OMIM:607341 |
Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Spasticity, Abnormal pyra... |
ORPHA:247604 |
Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... |
ORPHA:157941 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... |
ORPHA:100993 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... |
ORPHA:1175 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Paraplegia, Spastic gait, Lower ... |
OMIM:182601 |
Amyotrophic Lateral Sclerosis |
|
Paralysis, Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis, Spasticity |
ORPHA:803 |
Aicardi-Goutieres Syndrome 1 |
|
Deep white matter hypodensities, Dystonia, Leukoencephalopathy, Abnormality of extrapyramidal mot... |
OMIM:225750 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Narp Syndrome |
|
Babinski sign, Optic disc pallor, Myoclonic spasms, Corticospinal tract atrophy, Progressive gait... |
ORPHA:644 |
Diaminopentanuria |
|
Neurodegeneration, Ataxia, Spasticity |
OMIM:222350 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Steppage gait, Leukoencephalopathy, ... |
OMIM:618387 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Atrophy/Degeneration affec... |
OMIM:612319 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Paralysis, Cerebellar atrophy, Failure to thrive, Neuronal loss in central nervous system, Gliosi... |
OMIM:203700 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis,... |
OMIM:221770 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Cerebellar atrophy, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkins... |
OMIM:618093 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... |
OMIM:607136 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Falls, Bradykinesi... |
OMIM:617225 |
Familial Congenital Mirror Movements |
|
Clumsiness, Dysgenesis of the hippocampus, Cerebral palsy, Morphological abnormality of the corti... |
ORPHA:238722 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Tongue fasciculations, Facial palsy, Degeneration of anterior horn cells |
OMIM:301830 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cord lesion, Lower limb sp... |
ORPHA:320355 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Vocal cord paresis, Distal se... |
ORPHA:600 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Cerebellar atrophy, Brain atrophy, Microcephaly |
OMIM:618741 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Distal sensory impairment, Ab... |
OMIM:606070 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Motor axonal neu... |
OMIM:615643 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Trophic limb changes, Axonal loss, Gliosis, Decreased nerve conduction velocity, Enhanced neuroto... |
OMIM:118301 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... |
OMIM:143100 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Dystonia, Global brain atrophy, Axonal degen... |
OMIM:616811 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Spastic gait, Lower l... |
OMIM:610357 |
Primary Lateral Sclerosis, Juvenile |
|
Babinski sign, Spastic gait, Spastic dysarthria, Spasticity of facial muscles, Spasticity of phar... |
OMIM:606353 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Huntington Disease |
|
Clumsiness, Gait disturbance, Dystonia, Clonus, Gait imbalance, Involuntary movements, Rigidity, ... |
ORPHA:399 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Distal sensory impairment, Peripheral axonal degeneration, Decreased number of peripheral myelina... |
OMIM:608720 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Myoclonic spasms, Poor coordination, Global brain atrophy, Diffuse cerebellar a... |
ORPHA:478029 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Rigidity, Tremor, Morphological abnormality of the pyramidal tract, Abnormal pyrami... |
OMIM:260540 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... |
ORPHA:79263 |
Dihydropyrimidinase Deficiency |
|
Extrapyramidal dyskinesia, Morphological abnormality of the pyramidal tract, Abnormal cerebral wh... |
OMIM:222748 |
Polyglucosan Body Neuropathy, Adult Form |
|
Gait disturbance, Peripheral axonal neuropathy, Paresthesia, Distal sensory impairment, Tetrapare... |
OMIM:263570 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Megalencephaly, Slender build, Astrocytosis, Inability to walk, Difficulty walking |
OMIM:611087 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Ataxia, S... |
OMIM:607694 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... |
OMIM:300894 |
Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... |
ORPHA:98759 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Babinski sign, Atrophy/Degeneration involving the corticospinal t... |
ORPHA:139399 |
Idiopathic Camptocormia |
|
Dystonia, Abnormal pons morphology, Amyotrophic lateral sclerosis, Lewy bodies, Syringomyelia, Ab... |
ORPHA:1320 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Astrocytosis |
OMIM:172500 |
Cerebrotendinous Xanthomatosis |
|
Long-tract signs, Global brain atrophy, Axonal degeneration, Paraparesis, Abnormal pyramidal sign... |
ORPHA:909 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Spinocerebellar atrophy, Intention tremor, Ataxia, Spasticity, Gait ataxia, A... |
OMIM:215470 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Rigidity, Neuronal loss in central nervous system, Gliosis, Leukoencephalopathy, Bradykinesia, Sh... |
OMIM:221820 |
Christianson Syndrome |
|
Dystonia, Cachexia, Cerebellar atrophy, Neuronal loss in central nervous system, Stereotypy, Micr... |
ORPHA:85278 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, ... |
OMIM:615491 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxia, Oculomot... |
OMIM:617633 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady g... |
OMIM:213200 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
Primary Lateral Sclerosis |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Cervical spinal cord atrophy, Spas... |
ORPHA:35689 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Peripheral axonal neuropathy, Facial diplegia, Inability to walk, Abnormal anterior hor... |
OMIM:611890 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Failure to thrive, Leukoencephalopath... |
OMIM:618226 |
Optic Atrophy 11 |
|
Optic atrophy, Facial diplegia, Dysmetria, Leukoencephalopathy, Hyperactivity, Ataxia, Brain atro... |
OMIM:617302 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Ataxia,... |
ORPHA:255138 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... |
ORPHA:391411 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Cerebellar atrophy, Optic disc pallor, Dysmetria, Cerebellar vermis atrophy, Ataxi... |
OMIM:616204 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal periventricular white matter morphology, Tongue fasciculations, Abnormal anterior horn c... |
ORPHA:1145 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal... |
OMIM:137440 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia of the pyramidal tract, Microcephaly |
OMIM:619602 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral white matter atrophy, Tetraplegia,... |
ORPHA:369939 |
Friedreich Ataxia 2 |
|
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... |
OMIM:601992 |
Ane Syndrome |
|
Motor neuron atrophy, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Decreased response... |
ORPHA:157954 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Impaired proprioception, Babinski sign, Abnormality of the medulla oblongata, Abnormality of the ... |
OMIM:302900 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Cerebellar atrophy, Gait ataxia, Microcephaly |
ORPHA:438134 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Brain a... |
ORPHA:306669 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Waddling gait, Difficulty walking, Abnormal lower motor neuron morphology |
OMIM:611067 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Gait disturbance, Decreased nerve conduction velocity, Distal sensory impai... |
OMIM:615284 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Brain atrophy, Cerebral atrophy... |
ORPHA:85179 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Azoospermia, Torticollis, Leukoencephalopathy, Intention tremor... |
OMIM:613724 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Failure to thrive, Brain atrophy, Abnormal pyramidal sign, Lethargy |
OMIM:618228 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
Spinocerebellar Ataxia 34 |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdi... |
OMIM:133190 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Ataxia, Brain atrophy, Broad-based gait |
OMIM:206570 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Gait disturbance, Dystonia, Rigidity, Abnormal globus pallidus morphology, Spastic paraparesis, B... |
ORPHA:309854 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Dystonia, Optic atrophy, Leukoencephalopathy, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:612199 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Weight loss, Slender build, Ataxia, Abnormal cerebral white matter morphology |
OMIM:613662 |
Friedreich Ataxia And Congenital Glaucoma |
|
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... |
OMIM:229310 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Optic atrophy, Failure to thrive, Brain atrophy, Spasticity, Microcephaly |
OMIM:618229 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Gait disturbance, Cerebellar atrophy, Dystonia, Babinski sign, Neurodegeneration, ... |
OMIM:614298 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Babinski sign, Rigidity, Writer's cramp, Choreoathetosis, Neurodegeneration, Chorea, Br... |
OMIM:606159 |
Riboflavin Transporter Deficiency |
|
Cachexia, Abnormal cranial nerve morphology, Optic disc pallor, Myoclonus, Facial palsy, Tremor, ... |
ORPHA:97229 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia, Gait ataxia |
OMIM:612075 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... |
ORPHA:98772 |
Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Optic atrophy, Limb hypertonia, Rigidity, Failure to thrive, Myoclonus, Ab... |
ORPHA:442835 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... |
OMIM:612020 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Failure to thrive in infancy, Cachexia, Gait disturbance, Dystonia, Choreoathetosi... |
ORPHA:702 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia, Brain atrophy, Decreased body weight, Microcephaly |
OMIM:278760 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Neurodegeneration, Chorea,... |
OMIM:610217 |
Machado-Joseph Disease |
|
Dystonia, Babinski sign, Cerebellar atrophy, Rigidity, Dilated fourth ventricle, Gliosis, Abnorma... |
OMIM:109150 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Myoclonus, Brain atrophy, Lethargy |
OMIM:618225 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity, Brain atrophy, Spasticity, Decreased response to growth hormone... |
OMIM:615286 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pontocerebellar atrophy, Facial palsy, Astrocytosis, Pachygyria, Inability to walk, Cerebral edem... |
ORPHA:258 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation |
OMIM:619405 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atrophy, Impaired tactile sensation, Gai... |
OMIM:619092 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Rigidity, Neurodegeneration, Spastic tetraplegia, Ataxia, Cerebellar hypoplasia, A... |
OMIM:618476 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Failure to thrive, Abnormality of extrapyramidal mot... |
OMIM:614739 |
Krabbe Disease |
|
Progressive spasticity, Optic atrophy, Failure to thrive, Neurodegeneration, Peripheral demyelina... |
OMIM:245200 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dystonia, Neurodegeneration, Chorea, Gliosis, Ataxia, Cerebral edema, Abnormal cerebral white mat... |
OMIM:618321 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Martsolf Syndrome 2 |
|
Spastic diplegia, Brain atrophy, Dilation of lateral ventricles, Decreased body weight, Hypoplasi... |
OMIM:619420 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Rigidity, Frequent falls, Weight loss, Gliosis, Shuffling gait, Bradykinesia, Lewy bodi... |
ORPHA:411602 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Abnormality of peripheral nerve conduction, Cere... |
ORPHA:90324 |
Allan-Herndon-Dudley Syndrome |
|
Dystonia, Failure to thrive in infancy, Babinski sign, Limb hypertonia, Small for gestational age... |
ORPHA:59 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Distal sensory impairment, Cerebral atrophy, W... |
OMIM:609242 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Optic disc pallor, Opisthotonus, Frequent falls, Weight loss, Inability to walk... |
ORPHA:216866 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... |
OMIM:616239 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Cerebellar edema, Leukoencephalopathy, Tremor, Ataxia, Cerebral edema, Brain atrophy,... |
OMIM:617186 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Galloway-Mowat Syndrome 5 |
|
Peripheral demyelination, Pachygyria, Ataxia, Brain atrophy, Spasticity, Microcephaly |
OMIM:617731 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Dystonia, Cachexia, Cerebellar atrophy, Babinski sign, Facial diplegia, Spasticity, Hypoplasia of... |
OMIM:618186 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
Flynn-Aird Syndrome |
|
Cachexia, Impaired pain sensation, Ataxia, Cerebral calcification, Cerebral cortical atrophy |
ORPHA:2047 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Global brain atrophy, Inability to walk, Hypertonia, Spas... |
OMIM:616801 |
Isaac Syndrome |
|
Distal sensory impairment, Weight loss, Fasciculations |
ORPHA:84142 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response |
OMIM:272800 |
Fatal Familial Insomnia |
|
Weight loss, Neuronal loss in central nervous system, Myoclonus, Ataxia |
OMIM:600072 |
Rett Syndrome |
|
Dystonia, Cachexia, Truncal ataxia, Spasticity, Secondary microcephaly, Gait ataxia, Cerebral cor... |
OMIM:312750 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Punctate periventricular T2 hyperintense foci, Neurodegeneration, Chorea, Exaggerated s... |
ORPHA:309246 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Anxiety, Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Neurodegeneration, Paraparesis, Slurred speech, Incoordin... |
OMIM:300100 |
Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:98293 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Gait disturbance, Paroxysmal dystonia, Arm dystonia, Babinski sign, Neurodegeneration, Speech apr... |
ORPHA:79244 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait disturbance, Babinski sign, Lower limb spasticity, Impaired vibratory sensation, Spastic par... |
OMIM:601162 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Neurodegeneration, Chorea, Exaggerated startle response, Spastic tetraparesi... |
OMIM:272750 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss, Cerebral cortical atrophy |
ORPHA:1164 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration, Ataxia, Unsteady gait, Microcephaly |
OMIM:615919 |
Oculopharyngodistal Myopathy |
|
Paraplegia, Weight loss, Vocal cord paresis, Loss of ability to walk, Difficulty walking |
ORPHA:98897 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Progressive spasticity, Gait disturbance, Hypothalamic atrophy, Peripheral axonal neuropathy, Par... |
ORPHA:2822 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Motor axonal neuropathy, Fasciculations, Atrophy of the spinal cord, Somatic sensory dysfunction,... |
ORPHA:466768 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Cachexia, Peripheral axonal neuropathy, Paresthesia, D... |
ORPHA:298 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Cerebral degeneration, Global brain atrophy, Abnormal pyramidal sign, Gait disturbance, Eyelid ap... |
OMIM:234200 |
Smith-Magenis Syndrome |
|
Gait disturbance, Failure to thrive in infancy, Impaired pain sensation, Corticospinal tract hypo... |
ORPHA:819 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Optic atrophy, Gait disturbance, Failure to thrive, Lower limb spasticity, Atrophy of the spinal ... |
ORPHA:395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Cerebellar cyst, Exaggerated startle response, Lissencephaly, Pachygyria, Polymicr... |
OMIM:253800 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Optic atrophy, Clumsiness, Optic disc pallor, Cerebral palsy... |
ORPHA:447788 |
Isolated Succinate-Coq Reductase Deficiency |
|
Babinski sign, Frequent falls, Weight loss, Loss of ability to walk, Ataxia, Spastic tetraparesis... |
ORPHA:3208 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Absent septum pellucidum, Corticospinal tract hypoplasia, Spasticity, Spastic paraplegia, Agenesi... |
OMIM:307000 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Decreased nerve conduction velocity, Ataxia, Cerebral calcification, Microcephaly |
ORPHA:1933 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal lower motor neuron morphology |
ORPHA:93941 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Dystonia, Failure to thrive, Weight loss, Diffuse leukoencephalopathy, Spastic tet... |
OMIM:619487 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss, Myoclonus, Spinal cord compression, Ataxia, Ganglioneuroma |
OMIM:256700 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Phonic tics, Frontal cortical atrophy, Abnormal hippocampus morphology, L... |
ORPHA:2388 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Infantile Krabbe Disease |
|
Optic atrophy, Hypointensity of cerebral white matter on MRI, Cachexia, Opisthotonus, Failure to ... |
ORPHA:206436 |
Supranuclear Palsy, Progressive, 1 |
|
Parkinsonism, Neuronal loss in basal ganglia, Gait imbalance, Axial dystonia, Rigidity, Eyelid ap... |
OMIM:601104 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Chorea, Hyperactivity, Ataxia, Hypertonia, Microcephaly |
ORPHA:52503 |
Gm1 Gangliosidosis |
|
Optic atrophy, Dystonia, Gait disturbance, Failure to thrive, Weight loss, Abnormality of extrapy... |
ORPHA:354 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Lethargy |
ORPHA:30925 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Perry Syndrome |
|
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... |
OMIM:168605 |
Supranuclear Palsy, Progressive, 2 |
|
Postural tremor, Parkinsonism, Neuronal loss in basal ganglia, Gait imbalance, Axial dystonia, Ri... |
OMIM:609454 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Glossopharyngeal Neuralgia |
|
Weight loss, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Vocal cord pa... |
ORPHA:221098 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Multiple System Atrophy 1, Susceptibility To |
|
Babinski sign, Rigidity, Neurodegeneration, Bradykinesia, Tremor, Ataxia, Olivopontocerebellar at... |
OMIM:146500 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Oromandibular Dystonia |
|
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Hyperkinetic movements, Generaliz... |
ORPHA:93958 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Cerebral edema, Hyperintensity of MRI T2 signal of the... |
ORPHA:79139 |
Perry Syndrome |
|
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Moynahan Syndrome |
|
Cachexia, Microcephaly |
ORPHA:2574 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Lethargy |
ORPHA:178029 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Cachexia, Microcephaly, Poor coordination |
OMIM:610965 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum, Distal sensory impairment |
OMIM:616668 |
Erythrokeratodermia Variabilis |
|
Weight loss, Microcephaly |
ORPHA:317 |
Non-Functioning Paraganglioma |
|
Weight loss, Cranial nerve compression, Vocal cord paralysis, Paraganglioma, Tremor, Paragangliom... |
ORPHA:94080 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, Facial palsy, Tremor, Ataxia, Brain atrophy, Abnormal cerebral white matter morpholo... |
OMIM:164310 |
Stiff-Person Syndrome |
|
Agoraphobia, Anxiety, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Weight loss, Lethargy |
ORPHA:79242 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Hypointensity of cerebral white matter on MRI, Cachexia, Weight loss, Slender build, Leukoencepha... |
OMIM:603041 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss |
OMIM:275000 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Lethargy |
OMIM:143880 |
Familial Colorectal Cancer Type X |
|
Gait disturbance, Paresthesia, Glioblastoma multiforme, Weight loss, Pituitary adenoma, Hypertoni... |
ORPHA:440437 |
Lynch Syndrome |
|
Gait disturbance, Paresthesia, Glioblastoma multiforme, Weight loss, Pituitary adenoma, Hypertoni... |
ORPHA:144 |
Rhabdoid Tumor |
|
Cerebral palsy, Weight loss, Hemiplegia |
ORPHA:69077 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Wilson Disease |
|
Clumsiness, Failure to thrive, Weight loss, Difficulty walking, Increased body weight |
ORPHA:905 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Central nervous system degeneration, Gait disturbance, Weight loss, Hemiplegia/hemiparesis |
ORPHA:183 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Cockayne Syndrome |
|
Limb hypertonia, Progressive gait ataxia, Cerebral atrophy, Basal ganglia calcification, Somatic ... |
ORPHA:191 |
Polyarteritis Nodosa |
|
Weight loss, Polyneuritis, Sensory axonal neuropathy |
ORPHA:767 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia, Lethargy |
ORPHA:42 |
Liposarcoma |
|
Weight loss, Paresthesia |
ORPHA:69078 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss, Pituitary adenoma, Carcinoid tumor, Pituitary prolactin cel... |
ORPHA:97289 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Eosinophilic Fasciitis |
|
Weight loss, Paresthesia |
ORPHA:3165 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Abnormal superior cerebellar peduncle morphology, Weight loss, Spinal cord tumor, So... |
ORPHA:370348 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Cranial nerve compression, ... |
ORPHA:276621 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Hyperesthesia, Spastic tetraplegia, Severe failure to thrive, Hypoplasia of the corpus ... |
ORPHA:371364 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Hypertonia |
ORPHA:1389 |
Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy |
ORPHA:388 |
Renpenning Syndrome |
|
Cachexia, Microcephaly |
ORPHA:3242 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Williams Syndrome |
|
Involuntary movements, Gait disturbance, Failure to thrive in infancy, Chiari malformation, Gait ... |
ORPHA:904 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss, Cerebral cortical atrophy |
ORPHA:37 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Spastic hemiparesis, Leukoencephalopathy, Myoclonus, Ataxia, Spasticity, Microcephal... |
ORPHA:20 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss, Lewy bodies |
OMIM:605543 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Weight loss, Extrapyramidal dyskinesia, Spasticity |
ORPHA:134 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Periodic paralysis |
OMIM:613239 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Giant Cell Arteritis |
|
Optic atrophy, Weight loss, Ataxia, Paresthesia |
ORPHA:397 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Emotional lability, Irritability, Exaggerated startle response, Limb tremor |
OMIM:608643 |
Riddle Syndrome |
|
Clumsiness, Gait disturbance, Poor hand-eye coordination, Weight loss, Ataxia, Abnormal cerebral ... |
ORPHA:420741 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Weight loss, Cachexia |
ORPHA:1979 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss, Cerebral calcification |
OMIM:212750 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Tremor, Hyperactivity, Broad-based gait, Obesity, Microcephaly |
ORPHA:85293 |
African Trypanosomiasis |
|
Abnormal prolactin level, Gait disturbance, Impaired proprioception, Involuntary movements, Paral... |
ORPHA:3385 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Optic atrophy, Cachexia, Ataxia, Spasticity, Microcephaly |
ORPHA:220295 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Failure to thrive, Weight loss, Ataxia, Apraxia |
ORPHA:99885 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis |
ORPHA:142 |
Poems Syndrome |
|
Paresthesia, Weight loss, Hyperesthesia, Papilledema, Increased circulating prolactin concentration |
ORPHA:2905 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
8P23.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Weight loss, Microcephaly |
ORPHA:251071 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Cranial nerve compression, ... |
ORPHA:29072 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Whipple Disease |
|
Ataxia, Cachexia, Myoclonus, Abnormal pyramidal sign |
ORPHA:3452 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Weight loss, Lethargy |
ORPHA:465508 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Weight loss, Small for gestational age, Hand tremor |
ORPHA:424 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Anxiety, Exaggerated startle response |
ORPHA:438216 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Erdheim-Chester Disease |
|
Ataxia, Weight loss, Abnormal cerebellum morphology |
ORPHA:35687 |
Majeed Syndrome |
|
Failure to thrive, Weight loss, Cachexia |
ORPHA:77297 |
Desmoplastic Small Round Cell Tumor |
|
Weight loss, Cachexia |
ORPHA:83469 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Sandhoff Disease |
|
Progressive psychomotor deterioration, Exaggerated startle response |
OMIM:268800 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Medullary Thyroid Carcinoma |
|
Weight loss, Pheochromocytoma |
ORPHA:1332 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Lethargy |
ORPHA:199299 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Optic disc coloboma |
ORPHA:92050 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Failure to thrive in infancy |
ORPHA:171876 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Weight loss, Pulmonary carcinoid tumor |
ORPHA:97287 |
Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Pheochromocytoma, Pituitary null cell adenoma, Ependymoma, Pituitary ... |
ORPHA:652 |
Trisomy 18 |
|
Cachexia, Chiari malformation, Anencephaly, Hypertonia, Spina bifida, Aplasia/Hypoplasia of the c... |
ORPHA:3380 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia, Microcephaly |
ORPHA:217346 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss, Tetraplegia, Azoospermia |
ORPHA:361 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Tay-Sachs Disease |
|
Tremor, Anxiety, Exaggerated startle response, Memory impairment |
ORPHA:845 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Weight loss, Hand tremor |
ORPHA:99819 |
Alveolar Echinococcosis |
|
Ataxia, Weight loss, Hemiparesis |
ORPHA:284 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia |
OMIM:175500 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor |
ORPHA:100082 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Simple Cryoglobulinemia |
|
Weight loss, Paresthesia, Spontaneous pain sensation |
ORPHA:91139 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Weight loss, Carcinoid tumor |
ORPHA:100085 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Silver-Russell Syndrome |
|
Obesity, Secondary microcephaly, Failure to thrive in infancy, Cachexia |
ORPHA:813 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Paralysis, Cachexia, Azoospermia, Papilledema, Hypertonia, Oculomotor apraxia, Broad-based gait, ... |
ORPHA:2072 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Adrenocortical Carcinoma |
|
Weight loss, Increased body weight, Adrenocorticotropic hormone deficiency |
ORPHA:1501 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cognitive impairment, Exaggerated startle response |
OMIM:617527 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
Zollinger-Ellison Syndrome |
|
Neuroendocrine neoplasm, Pituitary null cell adenoma, Pituitary growth hormone cell adenoma, Weig... |
ORPHA:913 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Behçet Disease |
|
Gait disturbance, Paresthesia, Weight loss, Hemiparesis, Ataxia, Abnormal pyramidal sign |
ORPHA:117 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Weight loss, Respiratory paralysis, Tremor, Tetraplegia, Periodic hypokalemic paresis,... |
ORPHA:79102 |
Multiple Myeloma |
|
Weight loss, Paresthesia, Spinal cord compression |
ORPHA:29073 |
Norrie Disease |
|
Optic atrophy, Cachexia, Clonus, Abnormality of the diencephalon, Failure to thrive, Stereotypy, ... |
ORPHA:649 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Weight loss |
ORPHA:85450 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Weight loss, Secondary growth hormone deficiency, Abnormality of the pi... |
ORPHA:91347 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Neuroendocrine Tumor Of Stomach |
|
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor, Paraganglioma |
ORPHA:100075 |
Camurati-Engelmann Disease |
|
Optic atrophy, Cachexia, Optic nerve compression, Slender build, Facial palsy, Ataxia, Waddling gait |
ORPHA:1328 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss |
ORPHA:2126 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Familial Thrombocytosis |
|
Weight loss, Paresthesia |
ORPHA:71493 |
Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Microcephaly |
ORPHA:2058 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Ppoma |
|
Weight loss, Increased circulating gonadotropin level, Pituitary adenoma, Intestinal carcinoid, E... |
ORPHA:97278 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Schwartz-Jampel Syndrome |
|
Gait disturbance, Cachexia, Attention deficit hyperactivity disorder, Hypertonia, Decreased body ... |
ORPHA:800 |
Grfoma |
|
Weight loss, Increased circulating gonadotropin level, Pituitary adenoma, Intestinal carcinoid, E... |
ORPHA:97261 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Vipoma |
|
|