| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat... |
OMIM:614436 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, In... |
OMIM:302800 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
| Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia, Difficulty walking |
OMIM:616330 |
| Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Frequent falls, Difficulty walking |
OMIM:616227 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission, Fa... |
ORPHA:353327 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy |
OMIM:617892 |
| Huntington Disease-Like 2 |
|
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Cere... |
ORPHA:98934 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... |
ORPHA:803 |
| Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Tremor, Decreased number of... |
OMIM:208920 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... |
OMIM:604484 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
| Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dystonia |
OMIM:300857 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive |
OMIM:618811 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri... |
ORPHA:90103 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
| Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
| Porphyria, Acute Hepatic |
|
Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Talipes equinovarus, Difficul... |
OMIM:613710 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
| 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 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:98856 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Scoliosis |
OMIM:614750 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells |
ORPHA:65684 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
| Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, Gait disturbance, Periodic paralysis, Hyperlordosis |
OMIM:614198 |
| Spinocerebellar Ataxia Type 23 |
|
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... |
ORPHA:101108 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Talipes equinovarus |
OMIM:616155 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Scoliosis |
OMIM:616311 |
| Myasthenic Syndrome, Congenital, 5 |
|
Hyperlordosis, Decreased size of nerve terminals, Prolonged miniature endplate currents, Fatigabl... |
OMIM:603034 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, Fatigable w... |
ORPHA:1320 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:607706 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Split ... |
OMIM:604168 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Myoc... |
OMIM:159950 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... |
ORPHA:88628 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Paresis of extensor muscles of the big... |
ORPHA:99947 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Spinocerebellar ... |
ORPHA:2572 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Cerebral degeneration, Ataxia |
OMIM:260970 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy |
ORPHA:309169 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Los... |
OMIM:253400 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
| X-Linked Progressive Cerebellar Ataxia |
|
Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Camptodactyly of finger, Decreased ner... |
OMIM:604320 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... |
OMIM:609161 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short palm, Ataxia, Tremor,... |
OMIM:610185 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:254210 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Talipes equinovarus, ... |
OMIM:620011 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Scoliosis, Facial palsy, Decreased miniature endplate potentials |
OMIM:608930 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Clonus, P... |
ORPHA:300605 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
| Ravine Syndrome |
|
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, At... |
ORPHA:99852 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ... |
OMIM:618387 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... |
OMIM:608627 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Peripheral axonal degeneration, Impaired distal proprioception, Dec... |
ORPHA:101097 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... |
ORPHA:401820 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Decreased size of nerve terminals, Prolonged miniature endplate currents |
OMIM:601462 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis |
OMIM:616286 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Spinocere... |
OMIM:617916 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... |
OMIM:612319 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... |
ORPHA:98756 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal ... |
ORPHA:52430 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... |
OMIM:618876 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Waddling gait |
OMIM:618138 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Abnormal motor neuron morphology |
DECIPHER:29 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, A... |
OMIM:617225 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... |
OMIM:302500 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity |
OMIM:615889 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Impa... |
ORPHA:137898 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... |
ORPHA:306692 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Impaired distal proprioception, Decreased nerve conduction velo... |
ORPHA:99948 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... |
OMIM:162500 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Bilateral coxa valga |
OMIM:620270 |
| Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... |
OMIM:614877 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... |
OMIM:619054 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Fatigable weakness, Frequent falls |
OMIM:618197 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Facial-... |
ORPHA:276244 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait... |
ORPHA:95434 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... |
OMIM:615491 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... |
OMIM:615924 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S... |
OMIM:615643 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia |
ORPHA:640 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... |
ORPHA:216873 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... |
OMIM:616756 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Hammertoe, Fasciculations, Difficulty walking |
OMIM:615048 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Facial palsy, Decreased size of nerve terminals, Fatigable weakness of n... |
ORPHA:98913 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... |
OMIM:210000 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba... |
OMIM:615157 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa... |
ORPHA:101077 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Huntington Disease |
|
Caudate atrophy, Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Ba... |
ORPHA:399 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... |
ORPHA:206594 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
| Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor, Waddling gait |
OMIM:271150 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas... |
OMIM:607596 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
| Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... |
ORPHA:98759 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Fatiguable weakness of proximal limb muscles, D... |
ORPHA:2932 |
| Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... |
ORPHA:139578 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Poor coordination, Axonal degeneration, Neurodegeneration, Abnormal autonomic n... |
ORPHA:478029 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... |
OMIM:301830 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,... |
OMIM:620221 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... |
OMIM:616811 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... |
ORPHA:79263 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610743 |
| Isaacs Syndrome |
|
Weight loss, Distal sensory impairment |
ORPHA:84142 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper... |
ORPHA:247604 |
| Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Hammertoe, Peripheral hypomyeli... |
OMIM:616287 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... |
OMIM:137440 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral cortical atrophy |
OMIM:615911 |
| Myasthenic Syndrome, Congenital, 12 |
|
Fatigable weakness, Facial palsy, Waddling gait |
OMIM:610542 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... |
ORPHA:93952 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
| Pontocerebellar Hypoplasia Type 1 |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Tongue ... |
ORPHA:2254 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
| Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Split hand, Distal sensory impairment, Hammert... |
OMIM:118300 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... |
OMIM:617435 |
| Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276241 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... |
OMIM:617633 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... |
ORPHA:276435 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Gait disturbance, Scoliosis |
ORPHA:101078 |
| Hypokalemic Periodic Paralysis |
|
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Respiratory paralysis, P... |
ORPHA:681 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia, Hemiatrophy, Brain... |
ORPHA:306669 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Sen... |
ORPHA:445062 |
| Chronic Hiccup |
|
Depression, Weight loss |
ORPHA:396 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... |
ORPHA:363717 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... |
ORPHA:330050 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Babinski sign, Optic atrophy, Scissor gait, Axonal degeneration, Cerebral atrophy, Choreo... |
OMIM:278800 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... |
ORPHA:139399 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal tibia morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal femur morpholog... |
ORPHA:909 |
| Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Facial palsy, Prolonged miniature endplate currents, Decreased size of nerve termi... |
ORPHA:98915 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Spinocerebellar tract degeneration... |
OMIM:183090 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... |
ORPHA:683 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand trem... |
OMIM:614409 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
| Rabies |
|
Vocal cord paresis, Cerebral palsy, Paresthesia |
ORPHA:770 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante... |
OMIM:611890 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, Scoliosis, Abnormal nerve... |
ORPHA:99014 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... |
ORPHA:139485 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spas... |
OMIM:609541 |
| Secondary Syringomyelia |
|
Back pain, Hyperintensity of MRI T2 signal of the spinal cord, Paraplegia, Fatigable weakness, Pr... |
ORPHA:99857 |
| Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... |
OMIM:619279 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy |
OMIM:300983 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal autonomic nervous system phys... |
ORPHA:97229 |
| Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... |
ORPHA:228360 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Cerebellar glio... |
OMIM:616505 |
| Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... |
ORPHA:280234 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Difficulty wal... |
ORPHA:600 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dysme... |
OMIM:270550 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe ga... |
ORPHA:216866 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... |
OMIM:612716 |
| Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce... |
ORPHA:85278 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Hyperlordosi... |
OMIM:128100 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... |
OMIM:617404 |
| Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d... |
ORPHA:391417 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro... |
ORPHA:289560 |
| Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... |
ORPHA:363722 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Motor axonal neuropathy, Scoliosis, Abnorma... |
ORPHA:48431 |
| Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... |
OMIM:133190 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Scoliosis, Bruxism |
OMIM:300434 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis |
OMIM:611067 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... |
ORPHA:206448 |
| Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, A... |
OMIM:230650 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... |
OMIM:615290 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
| Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Fatigable weakness, Facial palsy |
OMIM:616322 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... |
OMIM:607694 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... |
ORPHA:401768 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis |
OMIM:619470 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the tw... |
ORPHA:268882 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
