Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
Microcephaly 25, Primary, Autosomal Recessive |
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Tethered cord |
OMIM:618351 |
Craniofacial Conodysplasia |
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Spinal cord compression |
ORPHA:85168 |
Schwannomatosis 2 |
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Spinal cord tumor |
OMIM:615670 |
Spinal Muscular Atrophy, Segmental |
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Abnormal anterior horn cell morphology |
OMIM:183020 |
Hereditary Liability to Pressure Palsies (HNPP) |
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Abnormal motor neuron morphology |
DECIPHER:31 |
Primary Lateral Sclerosis, Adult, 1 |
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Abnormal upper motor neuron morphology |
OMIM:611637 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Abnormal motor neuron morphology |
DECIPHER:29 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Abnormal lower motor neuron morphology |
OMIM:607641 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
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Spinocerebellar tract degeneration |
OMIM:271320 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Spinal cord compression, Myelopathy |
OMIM:602475 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:616208 |
Split Cord Malformation Type I |
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Diastomatomyelia |
ORPHA:1671 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Spinal cord compression |
OMIM:251250 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
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Dorsal column degeneration, Spinocerebellar tract degeneration |
ORPHA:3177 |
Amyotrophic Lateral Sclerosis 19 |
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Amyotrophic lateral sclerosis |
OMIM:615515 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Juvenile Primary Lateral Sclerosis |
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Abnormal upper motor neuron morphology |
ORPHA:247604 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
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Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 23 |
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Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
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Amyotrophic lateral sclerosis |
OMIM:617921 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
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Amyotrophic lateral sclerosis |
OMIM:614373 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
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Amyotrophic lateral sclerosis |
OMIM:205250 |
Amyotrophic Lateral Sclerosis 9 |
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Amyotrophic lateral sclerosis |
OMIM:611895 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
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Late-onset spinocerebellar degeneration |
OMIM:230450 |
Amyotrophic Lateral Sclerosis 11 |
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Amyotrophic lateral sclerosis |
OMIM:612577 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis |
OMIM:619141 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:608030 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
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Abnormal lower motor neuron morphology |
OMIM:611067 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Spinocerebellar tract degeneration |
OMIM:271310 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Abnormal lower motor neuron morphology |
ORPHA:95434 |
Myxopapillary Ependymoma |
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Abnormal conus terminalis morphology |
ORPHA:251643 |
Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology |
OMIM:607225 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Primary Lateral Sclerosis |
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Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Seckel Syndrome 8 |
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Spinal cord compression |
OMIM:615807 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis |
OMIM:617892 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death |
OMIM:611890 |
Polyglucosan Body Neuropathy, Adult Form |
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Abnormal upper motor neuron morphology |
OMIM:263570 |
Melanosis, Neurocutaneous |
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Death in infancy, Syringomyelia |
OMIM:249400 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Abnormal spinal cord morphology |
ORPHA:139578 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:105400 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Spinal cord lesion |
ORPHA:320355 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:613435 |
Boucher-Neuhauser Syndrome |
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Abnormal upper motor neuron morphology |
OMIM:215470 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Glutamate-Cysteine Ligase Deficiency |
|
Spinocerebellar tract degeneration |
ORPHA:33574 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Spinal cord lesion |
ORPHA:171863 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord |
ORPHA:99965 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Spinal cord lesion |
ORPHA:171612 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Spinal cord compression |
ORPHA:319487 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Caudal Duplication |
|
Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Brachyolmia Type 3 |
|
Spinal cord compression |
OMIM:113500 |
Basilar Impression, Primary |
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Syringomyelia, Abnormal cervical myelogram |
OMIM:109500 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Foix-Alajouanine Syndrome |
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Hyperintensity of MRI T2 signal of the spinal cord, Myelopathy, Spinal cord lesion, Cervical myel... |
ORPHA:79093 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Epidermal Nevus Syndrome |
|
Spinal cord compression, Atrophy of the spinal cord, Spinal cord tumor |
ORPHA:35125 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology |
OMIM:614298 |
Familial Cerebral Cavernous Malformation |
|
Spinal cord lesion |
ORPHA:221061 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord |
ORPHA:79139 |
Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Friedreich Ataxia 2 |
|
Abnormality of the spinocerebellar tracts, Abnormality of the dorsal column of the spinal cord |
OMIM:601992 |
Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
Limb Body Wall Complex |
|
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida |
ORPHA:2369 |
Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
Tetrasomy 9P |
|
Abnormal spinal cord morphology |
ORPHA:3310 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short stature |
OMIM:301041 |
Wieacker-Wolff Syndrome |
|
Short stature |
OMIM:314580 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
|
ORPHA:3454 |