| Major Affective Disorder 2 |
|
Bipolar affective disorder |
OMIM:309200 |
| Lithium Transport |
|
Bipolar affective disorder |
OMIM:152420 |
| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Major Affective Disorder 1 |
|
Depression |
OMIM:125480 |
| Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
| Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Babinski sign, Cogwheel rigidity, Spasticity, Spastic tetraparesis, Hypertonia, Loss of a... |
ORPHA:225154 |
| Intellectual Developmental Disorder, Autosomal Recessive 59 |
|
Aggressive behavior |
OMIM:617323 |
| Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... |
OMIM:253400 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Growth delay, Distal lower limb muscle weakness, Bradykinesia, Lower limb hypertonia, Tip-toe gai... |
ORPHA:100984 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... |
OMIM:105550 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Babinski si... |
OMIM:613954 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function... |
ORPHA:275872 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Hand muscle atrophy, Spasticity of facial m... |
OMIM:205100 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... |
OMIM:615643 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... |
ORPHA:306692 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Impaired vibrat... |
ORPHA:320370 |
| Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Upper motor neuron dysfunction, Skeletal muscle atrophy, Amyotrophic... |
OMIM:612577 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... |
OMIM:604484 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia |
OMIM:300857 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Cerebral a... |
ORPHA:521406 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... |
OMIM:617225 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
| Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Parkinsonism, Rigidity, Gait disturbance, Tremor, Substantia nigr... |
OMIM:600116 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Intention tr... |
ORPHA:98762 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand muscle weakness, Tip-toe gait, Dysmetria, Axonal degeneration, Hand tremor, Bab... |
OMIM:302800 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Dysmetr... |
OMIM:607136 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... |
ORPHA:300605 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Corpus callosum atrophy, Parkinso... |
OMIM:221820 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Tongue fasciculations,... |
OMIM:253550 |
| Huntington Disease |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... |
OMIM:143100 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... |
OMIM:607596 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... |
OMIM:608030 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... |
ORPHA:71517 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Action tremor, Cerebral ... |
ORPHA:254886 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum |
OMIM:609161 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... |
ORPHA:391411 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T... |
OMIM:300894 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity, Limb dystonia, Hypo... |
OMIM:618824 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Myoclonus, Progressive distal muscular atrophy, Facial palsy... |
OMIM:159950 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... |
OMIM:105400 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... |
ORPHA:100070 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations, Distal upper limb amyotrophy |
ORPHA:65684 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Bradykinesia, Limb ataxia, Babinski sign, Gait disturbance, Spastic paraplegia, Upper limb spasti... |
OMIM:618418 |
| Caribbean Parkinsonism |
|
Action tremor, Cerebral cortical atrophy, Bradykinesia, EMG: myopathic abnormalities, Myoclonus, ... |
ORPHA:97355 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Limb muscle weakness, Abno... |
OMIM:614373 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Neuronal loss in central nervous system, Ataxia, Gliosis, Cerebral atrophy, Myoclonus, Babinski s... |
ORPHA:204 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Amyotrophic lateral sclerosis, Babinski sign, Abnormal pyramidal sign, Distal amyotrophy, Abnorma... |
OMIM:602099 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism, Falls, Abnormal neuron morphology, Diffuse cerebral atrophy, Shufflin... |
ORPHA:412066 |
| Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... |
ORPHA:210571 |
| Inherited Creutzfeldt-Jakob Disease |
|
Senile plaques, Neuronal loss in central nervous system, Progressive extrapyramidal muscular rigi... |
ORPHA:282166 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... |
OMIM:261640 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations, Skeletal muscle atrophy |
OMIM:183050 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory impairment, Upper limb ... |
OMIM:302802 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Myoclonus, Babinski sign, Paroxysmal lethargy, Hemiparesis, Choreoat... |
OMIM:606777 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... |
OMIM:600795 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Neuronal loss in central nervous system, Abnor... |
OMIM:608627 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal sensory impairment, Difficulty walking, Paralysis, Skeletal muscle atrophy, Lethargy |
OMIM:613710 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy |
OMIM:611895 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Limb ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber... |
OMIM:258450 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Short stature, Spastic diplegia, Myoclonus, Babinski sign, Increased variability in muscl... |
OMIM:619065 |
| Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... |
ORPHA:276244 |
| Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Postural tremor, Dysdiado... |
ORPHA:98755 |
| Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... |
OMIM:617435 |
| Huntington Disease |
|
Gait imbalance, Inability to walk, Clumsiness, Cerebral atrophy, Poor fine motor coordination, Br... |
ORPHA:399 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Hemidystonia, Short stature, Abnormal pyramidal sign, Spastic tetraparesis, Spastic... |
OMIM:619052 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... |
ORPHA:95434 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia |
OMIM:618317 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:99014 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia |
ORPHA:517 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Akinesia, Ataxia, Parkinsonism with favorable response to dopaminergic m... |
OMIM:606693 |
| Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Oculogyric crisis, Gait a... |
ORPHA:101150 |
| Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... |
OMIM:109150 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Skeletal muscle atrophy, Spasticity |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Skeletal muscle atrophy |
OMIM:612069 |
| Childhood-Onset Nemaline Myopathy |
|
Slender build, Facial diplegia, Nemaline bodies, Clumsiness, Bradykinesia, Flexion contracture, E... |
ORPHA:171439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... |
OMIM:616437 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Gliosis, Poor fine motor coordination, Dysmetria, Clumsiness, Bradykin... |
ORPHA:157941 |
| Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction, Skeletal muscle atrophy, Dys... |
OMIM:500001 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia, Hypomimic face |
OMIM:128235 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... |
OMIM:183090 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Short stature, Gait disturbance, Impaired pa... |
ORPHA:2815 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... |
OMIM:602433 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Neurodegene... |
OMIM:606159 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Quadriceps muscle weakness, Babinski sign, Distal lower limb amyotrophy, Postural tremor, Inabili... |
ORPHA:99947 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... |
OMIM:606183 |
| Corticobasal Syndrome |
|
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Rimmed vacuoles, Babinski sign, Increased variability in muscle fib... |
OMIM:616924 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness |
OMIM:619141 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... |
ORPHA:171442 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Babinski sign, Parki... |
OMIM:300055 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Brain atrophy, Short stature, EMG: myopathic abnormalities, Rimmed... |
ORPHA:52430 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Axial mu... |
ORPHA:240085 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Inability to walk, Intrinsic hand muscle atrophy, Spastic paraparesis, Prox... |
ORPHA:101077 |
| Hypermanganesemia With Dystonia 2 |
|
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Limb joint contracture, Achi... |
OMIM:617013 |
| Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
| Infantile Dystonia-Parkinsonism |
|
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... |
ORPHA:238455 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Rigidity, Tremor, Cerebellar a... |
ORPHA:329284 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
| Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Di... |
ORPHA:306669 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Foot dorsiflexor weakness, Spinal muscular atrophy, Distal amyotrophy, Progressive spastic parapa... |
ORPHA:496756 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Nemaline Myopathy 2 |
|
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... |
OMIM:256030 |
| Porphyria, Acute Hepatic |
|
Paresthesia, Failure to thrive, Paralysis, Respiratory paralysis |
OMIM:612740 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Mitochondrial Myopathy With Diabetes |
|
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... |
OMIM:500002 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:276435 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Babinski sign... |
ORPHA:444099 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Babinski sign, Spastic ataxia, Spastic paraparesis |
OMIM:613672 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Fasciculations, Tongue fasciculations |
OMIM:613435 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... |
OMIM:619279 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism |
OMIM:615911 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Cerebral atrophy, Paralysis, Arthrogryposis multiplex congenita, Cerebellar atro... |
OMIM:616286 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Fasciculations, Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy... |
ORPHA:275864 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Parkinsonism, Truncal a... |
OMIM:618877 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Flexion contracture, Degeneration of anterior horn cells, Facial pal... |
OMIM:301830 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Small for gestational age, Limb hypertonia, Cerebral palsy, Rigidity, Oculogyric cr... |
ORPHA:70594 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Inability to walk, Truncal titubation, Action tremor, Opisthotonus, Babi... |
OMIM:607483 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Lower limb muscle w... |
OMIM:137440 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Dys... |
OMIM:617384 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... |
ORPHA:401768 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| Malaria |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... |
ORPHA:673 |
| Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Rimmed vacuoles, Increased variability in mu... |
OMIM:606070 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
| Dystonia 16 |
|
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... |
OMIM:612067 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Neurodegeneration, Paralysis, Spasticity, Motor neuron atrophy, Sk... |
ORPHA:803 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Diffuse cerebral ... |
ORPHA:363654 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Failure to thrive, Small for gestational age, Axonal degeneration, Degeneration of anterior horn ... |
OMIM:604320 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Bradykinesia, Ragged-red muscle fibers, Spastic tetraparesis, Dystonia |
OMIM:614924 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Mast Syndrome |
|
Spastic paraparesis, Babinski sign, Lower limb muscle weakness, Gait disturbance, Spastic paraple... |
OMIM:248900 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... |
ORPHA:13 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... |
OMIM:619473 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... |
OMIM:254110 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Ankle flexion contracture, Abnormal muscle fiber morphology, Weakness of facial ... |
ORPHA:1145 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, Parkinsonism with favorable response to dopaminergic medication, Bradykine... |
OMIM:157640 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Loss of ambulation |
OMIM:615515 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism |
OMIM:600274 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
ORPHA:423275 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Limb muscle weakness, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... |
OMIM:224120 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Upper limb spasticity, Dysmetria, Spastic paraparesis, Short stature, Ankle clonus, Knee clonus, ... |
OMIM:275900 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis |
OMIM:182610 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Dyston... |
OMIM:601338 |
| Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... |
OMIM:300623 |
| Tibial Muscular Dystrophy |
|
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... |
ORPHA:609 |
| X-Linked Dystonia-Parkinsonism |
|
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... |
ORPHA:53351 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
OMIM:616053 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... |
OMIM:617672 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Abnormal motor neuron morphology, Impaired pain sensation, Impaired... |
DECIPHER:29 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
| Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... |
OMIM:603516 |
| Adrenoleukodystrophy |
|
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Neurodegeneration, Truncal atax... |
OMIM:300100 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Generalized cerebral atrophy/hypoplas... |
ORPHA:36387 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... |
OMIM:615285 |
| Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... |
OMIM:611637 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Short stature, Myoclonus, Titubation, Impaire... |
ORPHA:98768 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Inability to walk, Frontal cortical atrophy, Cerebral cortical atrophy, Park... |
ORPHA:2822 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis, Myopathy, Proximal amyotrophy |
OMIM:262900 |
| Neuroferritinopathy |
|
Arm dystonia, Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinson... |
ORPHA:157846 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peroneal muscle weakness, Loss of ambulation, Hand muscle weakness, Intrinsic hand muscle atrophy... |
ORPHA:101097 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Inability to walk, Increased endomysial connective tissue, EMG: myopathic abnormalities, Increase... |
ORPHA:266 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Loss of ambulation, Frontal cortical atrophy, Brain atrophy, Pelvic gi... |
OMIM:167320 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Spasticity |
OMIM:617854 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Gliosis, Trophic limb changes, Degeneration of anterior horn cells, Par... |
OMIM:118301 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Spinocerebellar Ataxia Type 8 |
|
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Rigid... |
ORPHA:98760 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Neuronal loss in central nervous system, Ataxia, Gliosis, Failure to thrive, Myoclonu... |
OMIM:203700 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Inability to walk, Hand muscle weakness, Poor fine motor coordinat... |
ORPHA:99948 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Hand tremor, Babinski sign, Parkinsonism, Rigidity, Gait distu... |
ORPHA:289560 |
| Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Akinesia, Gliosis, Cereb... |
OMIM:601104 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Pos... |
OMIM:619911 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... |
ORPHA:225147 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle... |
OMIM:500003 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Astrocytosis |
OMIM:172500 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Akinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorab... |
ORPHA:240071 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... |
ORPHA:231401 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... |
ORPHA:603 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalities, Myelitis, Parkinso... |
ORPHA:1320 |
| Dravet Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Parkinsonism, Rigidity, Cog... |
ORPHA:33069 |
| Multiple System Atrophy |
|
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... |
ORPHA:102 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Distal amyotrophy, Impaired distal ... |
OMIM:607706 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Gliosis, Cerebral cortical atrophy, Parkinsonism with favorable response to dopaminergi... |
ORPHA:411602 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Blepharospasm, Brady... |
ORPHA:683 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Babinski sign... |
ORPHA:98808 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Leg muscle s... |
ORPHA:43 |
| Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Parkinson Disease 14, Autosomal Recessive |
|
Loss of ambulation, Clumsiness, Bradykinesia, Axial dystonia, Resting tremor, Hand tremor, Ankle ... |
OMIM:612953 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Babinski sign, Tremor, Spasticity, Dystonia, Abnormal pyramidal sign, Parkinsonism, Rigid... |
OMIM:234200 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Resti... |
ORPHA:227510 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Failure to thrive, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration... |
OMIM:614399 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Increased intramyocellular... |
OMIM:614487 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Machado-Joseph Disease Type 1 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Dystonia... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Dystonia... |
ORPHA:276241 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
| Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Cerebral atrophy, Exaggerated startle response, Abnormal pyramidal sign, Neurodegener... |
OMIM:272750 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... |
ORPHA:98933 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Abnor... |
OMIM:606353 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Tetraparesis, Choreoathetosis, Lethargy |
ORPHA:27 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Clumsiness, Amyotrophy of ankle musculature, Joint contracture of ... |
ORPHA:399086 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... |
OMIM:610217 |
| Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Paraparesis, Ataxia, Opisthotonus, Hand muscle atrophy, Upper limb muscle weakn... |
ORPHA:1136 |
| Boucher-Neuhauser Syndrome |
|
Ataxia, Spinocerebellar atrophy, Intention tremor, Distal amyotrophy, Gait ataxia, Abnormal upper... |
OMIM:215470 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
| Spinocerebellar Ataxia Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:98757 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis, Post... |
ORPHA:391417 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Inability to walk, Astrocytosis, Difficulty walking, Facial hypotonia |
OMIM:611087 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... |
OMIM:613280 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Diaminopentanuria |
|
Ataxia, Neurodegeneration, Spasticity |
OMIM:222350 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Myelopathy, Spastic paraparesis |
OMIM:159580 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
| Parkinson Disease, Late-Onset |
|
Neuronal loss in central nervous system, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Tr... |
OMIM:168600 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... |
ORPHA:778 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Spastic dysarthria, Distal... |
ORPHA:313772 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Lower limb amyotrop... |
ORPHA:466722 |
| Merrf |
|
Ragged-red muscle fibers, Ataxia, Myopathy, Short stature |
ORPHA:551 |
| Spinocerebellar Ataxia 28 |
|
Limb ataxia, Babinski sign, Parkinsonism, Somatic sensory dysfunction, Ragged-red muscle fibers, ... |
OMIM:610246 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Increased variability in muscle fiber diameter, Type 1 muscle fib... |
OMIM:619042 |
| Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Airway obstruction, Increased DLCO, Leukocytosis, Respiratory fail... |
ORPHA:90060 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... |
OMIM:615424 |
| Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ... |
ORPHA:171695 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... |
ORPHA:309854 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Difficulty walking, Paralysis |
OMIM:605285 |
| Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Crackles, Cough, Abnormal breat... |
ORPHA:210136 |
| Sengers Syndrome |
|
Respiratory insufficiency, Thrombocytopenia, Developmental cataract |
OMIM:212350 |
| Oculopharyngodistal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Loss of am... |
ORPHA:98897 |
| Perry Syndrome |
|
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia, Short stepped shuf... |
OMIM:168605 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Sensory ataxia, Distal sensory impairment, Difficulty walking, Limb muscle weakness, Vocal cord p... |
OMIM:614895 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Postencephalitic Parkinsonism |
|
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Babinski si... |
ORPHA:97349 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber diam... |
OMIM:607459 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... |
OMIM:619566 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Neurodegeneration, Rigidity, Tremor, Skeletal ... |
OMIM:146500 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... |
OMIM:612319 |
| Peroxisome Biogenesis Disorder 8B |
|
Failure to thrive, Ataxia, Cerebellar vermis atrophy, Dysmetria, Spastic paraparesis, Corpus call... |
OMIM:614877 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Vocal cord paralysis, Hypoesthesia, Hand paresthesia |
OMIM:162500 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... |
ORPHA:488650 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Myopathy |
OMIM:545000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Ataxia, Quadriceps muscle weakness, Tremor, Cogwheel rigidity, Limb muscle weakn... |
ORPHA:254892 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, Stillbirth |
OMIM:619751 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Failure to thrive, Spastic paraparesis, Abnormal pyramidal sign, Corpus callosum atrophy, Progres... |
OMIM:260600 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Lower limb spasticity, Bradykinesia |
OMIM:618878 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Tongue fasciculations, Involuntary movements, Ske... |
ORPHA:238329 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Increased variability in muscle fiber diameter, Gait disturbance, Spasticity, Myopathy |
OMIM:125250 |
| Primary Progressive Freezing Gait |
|
Gait imbalance, Cerebral cortical atrophy, Bradykinesia, Babinski sign, Rigidity, Frequent falls,... |
ORPHA:75567 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Right ventricular hypertr... |
ORPHA:353 |
| Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia |
OMIM:613606 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability in muscle fib... |
OMIM:619790 |
| Poliomyelitis |
|
Paraparesis, Inability to walk, Hypoplasia of the musculature, Abnormal skeletal muscle morpholog... |
ORPHA:2912 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Failure to thrive, Thrombocytopenia, Cataract |
ORPHA:67048 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Clumsiness, Myoclonus, Limb myoclonus, Lower limb muscle weakness, Abnormal lo... |
ORPHA:2590 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Distal amyotrophy, Abnormal lower motor neuron morphology, Spinal ... |
OMIM:611067 |
| Rabies |
|
Paresthesia, Cerebral palsy, Vocal cord paresis |
ORPHA:770 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Vocal cord paralysis |
ORPHA:640 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal muscle weakness in low... |
OMIM:618138 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Babinsk... |
OMIM:615491 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... |
OMIM:612937 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Slc35A1-Cdg |
|
Respiratory distress, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, Thrombocytopenia, Abnor... |
ORPHA:238459 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
