Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:617839 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Disinhibition, Dysphagia |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Disinhibition, Dysphagia |
OMIM:616437 |
Spinal Muscular Atrophy, Segmental |
|
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, Juvenile |
|
Abnormal upper motor neuron morphology, Dysphagia, Pseudobulbar paralysis |
OMIM:606353 |
Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Death in adolescence, Neonatal death, Thrombocytopenia, Dysphagia |
OMIM:619751 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Abnormal lower motor neuron morphology |
OMIM:607641 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology |
OMIM:611890 |
Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Disinhibition, Dy... |
ORPHA:275872 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness |
ORPHA:100070 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Dysphagia |
ORPHA:2590 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:613954 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Inappropriate behavior, Disinhibition, Abnormal upper motor neuron morphology, Aggressive behavior |
OMIM:221770 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... |
OMIM:602433 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:205100 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Spinocerebellar tract degeneration, Abnormal lower motor neu... |
ORPHA:276244 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen |
ORPHA:93941 |
Idiopathic Achalasia |
|
Dysphagia |
ORPHA:930 |
Japanese Encephalitis |
|
Anorexia, Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal c... |
ORPHA:79139 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Impulsivity |
OMIM:614298 |
Crisponi Syndrome |
|
Death in infancy |
ORPHA:1545 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
|
OMIM:272430 |