Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Vertigo, Benign Recurrent |
|
Gait imbalance |
OMIM:193007 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance |
ORPHA:256 |
Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia |
ORPHA:211017 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Paresthesia, Acroparesthesia |
ORPHA:356 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia 45 |
|
Limb ataxia, Gait ataxia |
OMIM:617769 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor... |
ORPHA:101010 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia |
OMIM:615268 |
Spastic Paraplegia 2, X-Linked |
|
Degeneration of the lateral corticospinal tracts, Dysmetria, Spinocerebellar tract degeneration, ... |
OMIM:312920 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Ataxia, Apraxia |
ORPHA:85338 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Ataxia |
OMIM:619333 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Corticospinal tract atrophy |
OMIM:551500 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Difficulty walking, Degeneration o... |
ORPHA:444099 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Degeneration of the lateral cortic... |
OMIM:603563 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Degeneration of the lateral cortic... |
OMIM:600363 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Broad-based gait, Ataxia, Abnormal pyramidal tract morphology, Impai... |
ORPHA:206448 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere... |
ORPHA:95434 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Spastic gait, Spinal cord lesion, Degeneration of the lateral corticospinal tracts |
ORPHA:320355 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... |
ORPHA:100999 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Limb ataxia, Difficulty wal... |
ORPHA:100989 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Spastic gait, Spinal cord lesion, Difficulty walking, Degeneration of the lateral corticospinal t... |
ORPHA:171612 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Degeneration of the lateral cortic... |
OMIM:182600 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance |
ORPHA:247604 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal pyramidal tract morphology, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Spastic gait, Spinal cord lesion, Degeneration of the lateral corticospinal tracts |
ORPHA:171863 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... |
OMIM:604360 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic ataxia, Waddling gait, Degeneration of the lateral corticospinal tracts, Impaired vibrati... |
OMIM:607259 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Degeneration of the lateral cortic... |
OMIM:182601 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:614373 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Dysmetria, Ga... |
OMIM:617633 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi... |
OMIM:616127 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... |
ORPHA:100993 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia |
OMIM:605021 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Narp Syndrome |
|
Progressive gait ataxia, Ataxia, Corticospinal tract atrophy |
ORPHA:644 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance |
OMIM:608030 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Degeneration of the latera... |
ORPHA:275872 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Spastic gait, Spinal cord lesion, Degeneration of the lateral corticospinal tracts |
ORPHA:171617 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Loss of ambulation, Spastic gait |
OMIM:606353 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Gait disturbance, Ataxia, Limb ataxia, Truncal ataxia |
OMIM:614229 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dysmetria, Progressive ... |
OMIM:183086 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m... |
ORPHA:35689 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Inability to walk, Abnormal anterior horn cell morphology... |
OMIM:611890 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Falls, Shuffling gait, Spinocerebellar tract degeneration, Short stepped sh... |
ORPHA:412066 |
Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Neurogenic bladder, Gait disturbance |
OMIM:263570 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Ataxia |
ORPHA:255138 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Ataxia |
ORPHA:3350 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Inability to walk, Difficulty walking, Waddling gait |
ORPHA:2590 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia |
OMIM:215470 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking |
OMIM:613954 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Adrenomyeloneuropathy |
|
Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the spinal cord, Abnormal spi... |
ORPHA:139399 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Smith-Magenis Syndrome |
|
Corticospinal tract hypoplasia, Gait disturbance, Impaired pain sensation |
ORPHA:819 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Diff... |
OMIM:205100 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gait disturbance |
OMIM:221770 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Gait disturbance, Spastic gait, Gait ataxia |
OMIM:601162 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ... |
ORPHA:276244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Agenesis of corpus callosum, Hypoplasia of the pyramidal tract |
OMIM:253800 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Loss of ambulation, Ataxia, Gait disturbance |
OMIM:614298 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Williams Syndrome |
|
Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Dysmetria, Gait disturbance, Gai... |
ORPHA:904 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord, Chore... |
ORPHA:79139 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |