| Major Affective Disorder 2 |
|
Bipolar affective disorder |
OMIM:309200 |
| Lithium Transport |
|
Bipolar affective disorder |
OMIM:152420 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Major Affective Disorder 1 |
|
Depression |
OMIM:125480 |
| Severe Primary Trimethylaminuria |
|
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression |
ORPHA:468726 |
| Obsessive-Compulsive Disorder |
|
Anxiety, Depression, Skin-picking |
OMIM:164230 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spastic tetraparesis, Dystonia, Lower limb muscle weakness, Loss of ability to walk, Atrophy/Dege... |
ORPHA:225154 |
| Intellectual Developmental Disorder, Autosomal Recessive 59 |
|
Aggressive behavior |
OMIM:617323 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spastic tetraparesis, Abnormal lower motor neuron morphology, Dystonia, Spastic gait, Hand muscle... |
OMIM:205100 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... |
OMIM:105550 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Frequent falls, Spastic gait, Impaired vibratory sensation, Hyperesthesia, Bradykinesia, Lower li... |
ORPHA:100984 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Tetraparesis, Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Sk... |
OMIM:613954 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Global brain atrophy, Apraxia... |
ORPHA:275872 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Tip-toe gait, Gait disturbance,... |
OMIM:615643 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Spastic gait, Impaired vibratory sensation, Spastic paraparesis, Ankle flexion contracture, Knee ... |
ORPHA:320370 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... |
ORPHA:306692 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Proximal a... |
OMIM:604484 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Multiple joint contra... |
ORPHA:521406 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Resting tremor, Spastic tetraplegia, I... |
OMIM:617225 |
| Spinal Muscular Atrophy, Type Iv |
|
Hand tremor, Degeneration of anterior horn cells, Proximal amyotrophy, Tongue fasciculations, Spi... |
OMIM:271150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Hypomimic face, Brady... |
OMIM:300423 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... |
OMIM:600116 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... |
ORPHA:98762 |
| Dystonia, Dopa-Responsive |
|
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... |
OMIM:128230 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Achilles tendon contracture, Cerebellar atrophy, Hand tremor, Dysmetria, Frequent... |
OMIM:302800 |
| Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Sk... |
OMIM:615157 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, A... |
OMIM:607136 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Fasciculations, Degeneration of anterior horn cells, Ataxia, Spinal muscul... |
OMIM:607596 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Somatic sensory dysfunction, Shuffling gait, Global brain atrophy, Apraxia, Bradyki... |
OMIM:221820 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Hypomimic fa... |
OMIM:260300 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Opisthotonus, Dystonia, Clonus, Axial dystonia, Skeletal muscle atrophy, Tip-toe gait, Head titub... |
ORPHA:300605 |
| Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Limb fasciculations, Skeletal muscle atrophy, Degeneration of anterior horn cells, T... |
OMIM:253400 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle amyotrophy, Dystonia, Scapular winging, Shoulder girdle muscle atrophy, Rimmed vacu... |
OMIM:167320 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Spasticity, Babi... |
OMIM:602099 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... |
ORPHA:101110 |
| Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Skeletal muscle atrophy, Degeneration of anterior horn cells, Tongue fasciculations,... |
OMIM:253550 |
| Huntington Disease |
|
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations, Proximal amyotrophy, Gait disturbance, Neuronal loss in central nervous system, A... |
OMIM:608030 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Bradykinesia, Ataxia, Progressive cerebe... |
ORPHA:248111 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Shuffling gait, Muscle fiber atrophy, Ragged... |
ORPHA:254886 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... |
ORPHA:71517 |
| Atypical Juvenile Parkinsonism |
|
Leg muscle stiffness, Abnormal pyramidal sign, Dystonia, Resting tremor, Short stepped shuffling ... |
ORPHA:391411 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Degeneration of the striatum, Dysdiadochokinesis, Bradykinesia, Rigidity, Gait disturbance |
OMIM:609161 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Parkinsonism, Ataxia, Cerebral cortical atrophy, Babinski sign, Amyotrophic lateral sclerosis |
OMIM:615911 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... |
ORPHA:766 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... |
OMIM:300894 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Generalized dystonia, Bradykinesia, Limb dystonia, Rigidity, Hypomimic face, Limb a... |
OMIM:618824 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Lower limb muscle weakness, Vocal co... |
OMIM:607641 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Progressive distal muscular ... |
OMIM:159950 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Fasciculations, Degeneration of anterior horn cells, Degeneration of the... |
OMIM:105400 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Senile plaques, Apraxia, Astrocytosis, Temp... |
ORPHA:100070 |
| Caribbean Parkinsonism |
|
Action tremor, Dystonia, Parkinsonism, Apraxia, Bradykinesia, EMG: myopathic abnormalities, Weakn... |
ORPHA:97355 |
| Monomelic Amyotrophy |
|
Fasciculations, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor |
ORPHA:65684 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Tremor |
OMIM:158580 |
| Amyotrophic Lateral Sclerosis 11 |
|
Upper motor neuron dysfunction, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612577 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Dystonia, Bradykinesia, Lower limb spasticity, Spastic paraplegia, Babinski sign, Gait disturbanc... |
OMIM:618418 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Limb muscle weakness, Spasticity, Abnormal upper motor ne... |
OMIM:614373 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... |
ORPHA:204 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia,... |
OMIM:261640 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Short stepped shuffling gait, Shuffling gait, Falls, Bradykinesia, Diffuse cerebral... |
ORPHA:412066 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... |
ORPHA:210571 |
| Inherited Creutzfeldt-Jakob Disease |
|
Central nervous system degeneration, Abnormal pyramidal sign, Senile plaques, Global brain atroph... |
ORPHA:282166 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Choreoathetosis, Ataxia, Lethargy, Spasticity, Hemiparesis, Paroxysmal dystonia, Parox... |
OMIM:606777 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity |
OMIM:183050 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Foot dorsiflexor weakness, Steppage gait, Paraparesis, Upper limb muscle weakness, Distal sensory... |
OMIM:302802 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Babinski sign, Gait disturbance, Post... |
ORPHA:314632 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism |
OMIM:105500 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... |
OMIM:615528 |
| Parkinson Disease 14, Autosomal Recessive |
|
Parkinsonism, Dystonia, Global brain atrophy, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsi... |
OMIM:612953 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Astrocytosis, Rigidity, Cerebral cortical atrophy, Gait disturbance, Neuronal loss in c... |
OMIM:600795 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy |
OMIM:611895 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Failure to thrive in infancy, Increased variability in muscle fiber diameter, Ataxia, S... |
OMIM:619065 |
| Huntington Disease |
|
Cerebral atrophy, Caudate atrophy, Degeneration of the striatum, Dystonia, Involuntary movements,... |
ORPHA:399 |
| Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Impaired p... |
ORPHA:98755 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Bradykinesia, Hemidystonia, Short st... |
OMIM:619052 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Thrombocytopenia, Weight loss |
ORPHA:517 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Ataxia, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance, Tremor |
ORPHA:99014 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Ataxia, Chorea |
OMIM:618317 |
| Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Caudate atrophy, Dys... |
OMIM:617435 |
| Childhood-Onset Nemaline Myopathy |
|
Nemaline bodies, Scapular winging, Flexion contracture, Slender build, Bradykinesia, Increased va... |
ORPHA:171439 |
| Kufor-Rakeb Syndrome |
|
Leg muscle stiffness, Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxi... |
OMIM:606693 |
| Huntington Disease-Like 2 |
|
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss |
OMIM:606438 |
| Machado-Joseph Disease |
|
Cerebellar atrophy, Spinocerebellar tract degeneration, Dystonia, Parkinsonism, Impaired vibrator... |
OMIM:109150 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Parkinsonism, Generalized dystonia, Focal dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Limb... |
ORPHA:101150 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Spinocerebellar tract degeneration, D... |
ORPHA:276244 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Imp... |
ORPHA:95434 |
| Amyotrophic Lateral Sclerosis 18 |
|
Fasciculations, Amyotrophic lateral sclerosis, Spasticity, Skeletal muscle atrophy |
OMIM:614808 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Parkinsonism, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Bradykines... |
OMIM:258450 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Cerebral cortica... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Cerebral cortica... |
OMIM:616437 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Hypomimic face, Bradykinesia, Ataxia, Lar... |
OMIM:606159 |
| Huntington Disease-Like 1 |
|
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... |
ORPHA:157941 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor |
OMIM:168100 |
| Dystonia 12 |
|
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Hypomimic face, Torticollis, Tremor |
OMIM:128235 |
| Spastic Paraparesis-Deafness Syndrome |
|
Impaired pain sensation, Spastic paraparesis, Ataxia, Short stature, Gait disturbance, Hemiplegia... |
ORPHA:2815 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Lethargy, Spast... |
ORPHA:71277 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... |
ORPHA:240103 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Spasticity, Babinski sign, Skeletal muscle atrophy |
OMIM:612069 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... |
OMIM:602433 |
| Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Frequent falls, Somatic sensory dysfunction, Flexion contracture, Impaired vibratory sensation, H... |
ORPHA:99947 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Difficulty walk... |
ORPHA:306669 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... |
OMIM:606183 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Lower limb amyotrophy, Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation,... |
OMIM:616924 |
| Corticobasal Syndrome |
|
Parkinsonism, Dystonia, Somatic sensory dysfunction, Involuntary movements, Bradykinesia, Limb ap... |
ORPHA:454887 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the extraocular muscles, Vocal cord paresis, Rimmed vacuoles, Unsteady gait, Abnor... |
ORPHA:600 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Bradykinesia, Increased variabi... |
ORPHA:171442 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia,... |
OMIM:300055 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal m... |
ORPHA:101077 |
| Spastic Paraplegia 2, X-Linked |
|
Dysmetria, Spastic gait, Spinocerebellar tract degeneration, Flexion contracture, Skeletal muscle... |
OMIM:312920 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... |
OMIM:613135 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fasciculations, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities, Gen... |
ORPHA:52430 |
| Gne Myopathy |
|
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... |
ORPHA:602 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bradykinesia, Ataxia, Short stature, Rigidity, Tremor |
OMIM:617836 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Rigidity, Bradykinesia, Dysdiadochokinesis |
ORPHA:228169 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Falls, Bradykinesia, Axial muscle stiffness, Rigidity, Parkinsonism with favorable resp... |
ORPHA:240085 |
| Autosomal Dominant Cerebellar Ataxia |
|
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... |
ORPHA:99 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic tetraparesis, Foot dorsiflexor weakness, Progressive spastic parapare... |
ORPHA:496756 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Spinocerebellar tract degeneration, Action tremor, Parkinsonism, Impaired vibratory se... |
OMIM:183090 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... |
ORPHA:329284 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Opisthotonus, Scissor gait, Ankle clonus, Tremor, Cerebellar atrophy, Tip-toe gait, Ach... |
OMIM:617013 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Distal lower limb muscle weakness, Paralysis, Difficulty walking |
OMIM:608634 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Skeletal muscle atrophy, Spastic dys... |
ORPHA:247604 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... |
ORPHA:444099 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:617158 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Infantile Dystonia-Parkinsonism |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia... |
ORPHA:238455 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... |
OMIM:300835 |
| Alpers-Huttenlocher Syndrome |
|
Choreoathetosis, Spastic paraparesis, Ataxia, Paraparesis, Spasticity, Progressive spasticity, My... |
ORPHA:726 |
| Nemaline Myopathy 2 |
|
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Arthrogrypos... |
OMIM:256030 |
| Porphyria, Acute Hepatic |
|
Paresthesia, Failure to thrive, Respiratory paralysis, Paralysis |
OMIM:612740 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis |
OMIM:603529 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Skeletal muscle atrophy, Lethargy, Difficulty walking, Contractures of the joints of t... |
OMIM:613710 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Fasciculations, Neuronal loss in central nervous system, Postural tremor... |
OMIM:608627 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Bradykinesia, Ataxia, Lethargy |
OMIM:618683 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... |
ORPHA:276435 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic paraparesis, Babinski sign, Spastic ataxia |
OMIM:613672 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... |
OMIM:618655 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... |
ORPHA:178464 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable res... |
OMIM:619279 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebral atrophy, Cerebellar atrophy, Paralysis, Skeletal muscle atrophy, Knee flexion contractur... |
OMIM:616286 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... |
OMIM:613673 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Apraxia, Lower limb muscle weakness, Bradykinesia, Gait ataxia,... |
OMIM:137440 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Astrocytosis, Fasciculations, Upper motor neuron dysfunction, Gait disturbance,... |
ORPHA:275864 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Cerebral atrophy, Hypertonia, Hemiballismus, Dystonia, Parkinsonism, Choreoathetosis, Bradykinesi... |
OMIM:618877 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:610297 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Dystonia, Resting tremor, Involuntary movements, Increased variability in muscle fiber diameter, ... |
ORPHA:401768 |
| Mast Syndrome |
|
Apraxia, Lower limb muscle weakness, Spastic paraparesis, Spastic paraplegia, Gait disturbance, B... |
OMIM:248900 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... |
OMIM:607483 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Flexion contracture, Multiple joint contractures, Degeneration of anterior horn cells, Tongue fas... |
OMIM:301830 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Bradykinesia, Resting tremor, Tremor |
OMIM:616710 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... |
OMIM:224120 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Respiratory di... |
ORPHA:673 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Broad-based gait, Hyper... |
OMIM:617384 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... |
OMIM:612067 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... |
OMIM:615631 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... |
OMIM:213600 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Diffuse cerebral atrophy, S... |
ORPHA:363654 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Small for gestational age, Oculogyric crisis, Bradykinesia, Limb hypertonia, Growth del... |
ORPHA:70594 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... |
ORPHA:423275 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... |
OMIM:619473 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor |
OMIM:615889 |
| Niemann-Pick Disease, Type B |
|
Splenomegaly, Dyspnea, Anemia, Bone-marrow foam cells, Decreased DLCO, Hypertriglyceridemia, Incr... |
OMIM:607616 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... |
ORPHA:86841 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Spastic gait, Flexion contracture, Upper limb spasticity, Lower li... |
OMIM:275900 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Dystonia, Ragged-red muscle fibers, Bradykinesia, Failure to thrive |
OMIM:614924 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Paralysis, Skeletal muscle atrophy, Spasticity, Neurodegeneration, Amyotrop... |
ORPHA:803 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Intrauterine growth retardation, Small for gestational age, Degeneration of anterior horn cells, ... |
OMIM:604320 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism |
OMIM:600274 |
| Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... |
OMIM:616053 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ability to walk, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Increased variability in muscle fiber diameter, Hand musc... |
OMIM:606070 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Inflammatory myopathy, Skeletal muscle atrophy, Degeneration of anterior horn cells, Ankle flexio... |
ORPHA:1145 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Opisthotonus, Dystonia, Choreoathetosis, Oculogyric crisis, Bradykinesia, Ataxia, Rigidity, Clonu... |
ORPHA:13 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity |
OMIM:605909 |
| Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Parkinsonism, Rhabdomyolysis, Resting tremor, Skeletal muscle atrophy, Muscle fiber necrosis, Rag... |
OMIM:157640 |
| Acute Peripheral Arterial Occlusion |
|
Impaired distal tactile sensation, Paralysis, Limb muscle weakness, Paresthesia |
ORPHA:90064 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Lower limb muscle weakness, Spastic paraparesis, Spastic paraplegia |
OMIM:182610 |
| Tibial Muscular Dystrophy |
|
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... |
ORPHA:609 |
| X-Linked Dystonia-Parkinsonism |
|
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Focal dystonia, Shuffling gait, Bl... |
ORPHA:53351 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Dysmetria, Dystonia, Bradykinesia, Ataxia, Gait ataxia, Hemiparesis, Truncal atax... |
OMIM:601338 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Action tremor, Dysmetria, Resting tremor, Parkinsonism, Intention tremor, Bra... |
OMIM:300623 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Parkinsonism, Decreased ... |
OMIM:617672 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Impaired temperat... |
DECIPHER:29 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... |
OMIM:616860 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Refractory Anemia |
|
Normocytic anemia, Dyspnea, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Adrenoleukodystrophy |
|
Incoordination, Lower limb muscle weakness, Spastic paraplegia, Paraparesis, Truncal ataxia, Neur... |
OMIM:300100 |
| Leber Optic Atrophy And Dystonia |
|
Dystonia, Skeletal muscle atrophy, Bradykinesia, Athetosis, Upper motor neuron dysfunction, Spast... |
OMIM:500001 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Proximal muscle weakness in lower limb... |
OMIM:619733 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Extramedullar... |
OMIM:615285 |
| Spastic Paraparesis And Deafness |
|
Short stature, Spastic paraparesis, Tremor |
OMIM:312910 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... |
OMIM:611637 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Neuroferritinopathy |
|
Parkinsonism, Caudate atrophy, Resting tremor, Dystonia, Focal dystonia, Blepharospasm, Involunta... |
ORPHA:157846 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Bradykinesia, Gait ataxia, Impaired distal vibration sensation, Short stature... |
ORPHA:98768 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Atrophy of the spinal cord, Parkinsonism, Lower limb muscle weakness, Obesity, Inability to walk,... |
ORPHA:2822 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Frequent falls, Flexion contracture, Impaired vibratory ... |
ORPHA:101097 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis, Proximal amyotrophy, Myopathy |
OMIM:262900 |
| Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Parkinsonism, Paralysis, Ataxia, Paraparesis, Hemiparesis |
ORPHA:140989 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... |
ORPHA:266 |
| Thrombocytopenia, Cyclic |
|
Neutropenia, Cyclic neutropenia, Thrombocytopenia |
OMIM:188020 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... |
OMIM:601954 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Spasticity, Ataxia |
OMIM:617854 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis |
OMIM:600333 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Ataxia, Poor fine motor co... |
ORPHA:36387 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Parkinsonism, Peroneal muscle atrophy, Degeneration of anterior horn cells, Peroneal muscle weakn... |
OMIM:118301 |
| Rh Deficiency Syndrome |
|
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Hypoxemia, Tachypnea, Anisocytosis, Spher... |
ORPHA:71275 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Frequent falls, Vocal cord paresis, Impaired distal tactile sensation, Impaired pain sensation, I... |
ORPHA:99948 |
| Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... |
ORPHA:98760 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... |
OMIM:618848 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Frequent falls, Hand tremor, Dystonia, Parkinsonism, Shuffling gait, Spastic paraparesis, Bradyki... |
ORPHA:289560 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Paralysis, Astrocytosis, Ataxia, Failure to thrive, Gliosis, Neuronal loss in... |
OMIM:203700 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Freezing of gait, Focal dystonia, Extrapyramidal muscular ... |
ORPHA:99750 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Ragged-red muscle fibers, Poor motor ... |
OMIM:500003 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Dystonia, Skeletal muscle atrophy, Increased intramyocellular lipi... |
OMIM:614487 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Axial dystonia, Falls, Blepharospasm, Bradykines... |
ORPHA:240071 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... |
OMIM:300908 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Parkinsonism, Dystonia, Resting tremor, Hypomimic face, Bradykinesia, Gait disturbance, Gait atax... |
ORPHA:225147 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... |
OMIM:619725 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Abnormality of extrapyramidal motor function, Parkinsonism, Progressive flexion contractures, Gen... |
ORPHA:98808 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Astrocytosis |
OMIM:172500 |
| Multiple System Atrophy |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... |
ORPHA:102 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Dyspnea, Acute leukemia, Thrombocyt... |
ORPHA:231401 |
| Hereditary Late-Onset Parkinson Disease |
|
Frequent falls, Dystonia, Resting tremor, Parkinsonism, Shuffling gait, Bradykinesia, Akinesia, R... |
ORPHA:411602 |
| Progressive Supranuclear Palsy |
|
Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Cerebral cortical atrophy, Gliosi... |
ORPHA:683 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication |
OMIM:613643 |
| Idiopathic Camptocormia |
|
Cerebral atrophy, Syringomyelia, Dystonia, Parkinsonism, Abnormal muscle fiber dysferlin, Myositi... |
ORPHA:1320 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... |
OMIM:619130 |
| Parkinson Disease 17 |
|
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor |
OMIM:614203 |
| Multiple System Atrophy, Cerebellar Type |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... |
ORPHA:227510 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
| X-Linked Adrenoleukodystrophy |
|
Incoordination, Leg muscle stiffness, Paralysis, Somatic sensory dysfunction, Gait disturbance, P... |
ORPHA:43 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy, Spastic paraparesis, Abnormal pyramidal sign |
OMIM:159580 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... |
OMIM:614399 |
| Dravet Syndrome |
|
Incoordination, Action tremor, Parkinsonism, Global brain atrophy, Bradykinesia, Cogwheel rigidit... |
ORPHA:33069 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:167850 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Global brain atrophy, Phonic tics, Decreased muscle mass, Abnormality of extrapyramidal... |
OMIM:234200 |
| Hsd10 Disease |
|
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Postnatal growth retard... |
ORPHA:391417 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Spastic tetraparesis, Paralysis, Dystonia, Abnormal pyramidal sign, Neurodegene... |
OMIM:272750 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
| Eosinophilia, Familial |
|
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia |
OMIM:131400 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Multiple System Atrophy, Parkinsonian Type |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... |
ORPHA:98933 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
| Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Spinocerebellar tract degeneration, Degeneration of the striatum, Dystonia, A... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Spinocerebellar tract degeneration, Degeneration of the striatum, Dystonia, A... |
ORPHA:276241 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dysmetria, Dystonia, Spastic dysarthria, Lower limb muscle weakness, Spastic ... |
ORPHA:313772 |
| Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:173590 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Intention tremor, ... |
OMIM:610217 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia |
OMIM:604498 |
| Arnold-Chiari Malformation Type Ii |
|
Hand muscle atrophy, Myelomeningocele, Opisthotonus, Syringomyelia, Somatic sensory dysfunction, ... |
ORPHA:1136 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... |
ORPHA:399086 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... |
ORPHA:66624 |
| Spinocerebellar Ataxia Type 3 |
|
Abnormal pyramidal sign, Dystonia, Skeletal muscle atrophy, Vocal cord paralysis, Progressive cer... |
ORPHA:98757 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Cerebra... |
OMIM:606353 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Abnormal pyramidal sign, Progressive flexion contractures, Global brain atrophy, Spastic parapare... |
OMIM:260600 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia |
ORPHA:3319 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... |
OMIM:254110 |
| Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Steppage gait, Rigidity, Poor fine mot... |
OMIM:613280 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... |
ORPHA:98870 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, D... |
OMIM:215470 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Slender build, Astrocytosis, Inability to walk, Difficulty walking |
OMIM:611087 |
| Diaminopentanuria |
|
Spasticity, Ataxia, Neurodegeneration |
OMIM:222350 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Parkinson Disease, Late-Onset |
|
Parkinsonism, Dystonia, Resting tremor, Short stepped shuffling gait, Bradykinesia, Substantia ni... |
OMIM:168600 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Elevated circulating creatinine... |
ORPHA:90060 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Tetraparesis, Choreoathetosis, Ataxia, Lethargy, Paraparesis |
ORPHA:27 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... |
ORPHA:206549 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... |
OMIM:615424 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... |
OMIM:619042 |
| Rett Syndrome |
|
Dystonia, Motor stereotypy, Stereotypical hand wringing, Skeletal muscle atrophy, Bradykinesia, I... |
ORPHA:778 |
| Peroxisome Biogenesis Disorder 8B |
|
Dysmetria, Cerebellar vermis atrophy, Spastic paraparesis, Ataxia, Failure to thrive, Spasticity,... |
OMIM:614877 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Cerebral atrophy, Dystonia, Choreoathetosis, Intention tremor, Spastic paraparesis, Ataxia, Rigid... |
OMIM:608804 |
| Parkinsonian-Pyramidal Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Intention tremor, Bradykinesia, ... |
ORPHA:171695 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume, Epistaxis |
OMIM:615193 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Progressive spastic paraplegia, Lower limb amyotrophy, Dystonia, Intention tremor, Bradykinesia, ... |
ORPHA:466722 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance |
ORPHA:67047 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Action tremor, Dystonia, Astrocytosis, Spastic paraparesis, Bradykinesia, Hypomimic face, Gait di... |
ORPHA:309854 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Difficulty walking |
OMIM:605285 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Lo... |
OMIM:619566 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... |
OMIM:603552 |
| Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... |
ORPHA:488650 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Ataxia, Myopathy, Spasticity, Gait disturbance |
OMIM:125250 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Restrictive ventilatory defect, Hepatosplenomegaly,... |
ORPHA:210136 |
| Perry Syndrome |
|
Parkinsonism, Dystonia, Short stepped shuffling gait, Bradykinesia, Akinesia, Rigidity, Weight lo... |
OMIM:168605 |
| Oculopharyngodistal Myopathy |
|
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Vocal cord paresis, Loss of a... |
ORPHA:98897 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Vocal cord paresis, Sensory ataxia, Limb muscle weakness, Distal sensory... |
OMIM:614895 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia |
OMIM:133180 |
| Sengers Syndrome |
|
Respiratory insufficiency, Developmental cataract, Thrombocytopenia |
OMIM:212350 |
| Sebastian syndrome |
|
Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies, Thrombocytopenia, Epist... |
OMIM:605249 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:613112 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... |
ORPHA:399058 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis, Hand muscle weakness, Hypoesthesia, Hand paresthesia |
OMIM:162500 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Impaired distal proprio... |
OMIM:607459 |
| Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Skeletal muscle atrophy, Bradykinesia, Ataxia, Rigidity, Neurodegeneration, Babinsk... |
OMIM:146500 |
| Postencephalitic Parkinsonism |
|
Abnormal pyramidal sign, Resting tremor, Oculogyric crisis, Involuntary movements, Bradykinesia, ... |
ORPHA:97349 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Gray Platelet Syndrome |
|
Epistaxis, Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes |
ORPHA:721 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Frequent falls, Right ventricular hypertrophy, Increased endomysial ... |
ORPHA:353 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... |
OMIM:187800 |
| Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia |
OMIM:613606 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity |
OMIM:618878 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic tetraparesis, Dystonia,... |
OMIM:612319 |
| Primary Progressive Freezing Gait |
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Frequent falls, Shuffling gait, Bradykinesia, Rigidity, Cerebral cortical atrophy, Clonus, Babins... |
ORPHA:75567 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Cogwheel rigidity, Limb muscle weakness, Left ventricular hypertrophy, ... |
ORPHA:254892 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
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Increased variability in muscle fiber diameter, Involuntary movements, Tongue fasciculations, Ske... |
ORPHA:238329 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Leukocytosis, Tachypnea, Anisocytosis, Respiratory failure, Atelectasis, Fail... |
OMIM:618278 |
| Poliomyelitis |
|
Paralysis, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Lower limb muscle weakne... |
ORPHA:2912 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Failure to thrive, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired proprioception, Impaired vibratory sensation, Spastic paraparesis, Thenar muscle atrophy... |
OMIM:500013 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia |
ORPHA:169079 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Blepharospasm, Leg dystonia, Bradykinesia, Rigidity, Postural tremor, Parkinsonis... |
OMIM:606324 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... |
OMIM:618138 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... |
OMIM:618940 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:613101 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Pelvic girdle muscle weakness, Frequent falls, Scapular winging, Foo... |
OMIM:603689 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dysmetria, Dystonia, Delayed puberty, Ataxia, Short stature, Cerebral cortica... |
OMIM:607694 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Vocal cord paralysis |
ORPHA:640 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Hand tremor, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Tibialis atrophy, Spastic ... |
ORPHA:101076 |
| Rabies |
|
Vocal cord paresis, Cerebral palsy, Paresthesia |
ORPHA:770 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Unsteady gait, My... |
OMIM:612937 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Flexion contracture, Neurodegenera... |
OMIM:615491 |
| Slc35A1-Cdg |
|
Pneumonia, Hypoxemia, Giant platelets, Abnormal platelet granules, Neutropenia, Respiratory distr... |
ORPHA:238459 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Joint contracture of the hand, Scapuloperoneal amyotrophy... |
OMIM:611067 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... |
ORPHA:1878 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Epistaxis |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Epistaxis |
OMIM:613554 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Short stature, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
| Supranuclear Palsy, Progressive, 1 |
|
Parkinsonism, Axial dystonia, Bradykinesia, Gliosis, Akinesia, Limb dystonia, Gait imbalance, Rig... |
OMIM:601104 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... |
ORPHA:75564 |
| Manganese Poisoning |
|
Dystonia, Bradykinesia, Akinesia, Cogwheel rigidity, Postural tremor, Gait disturbance, Abnormali... |
ORPHA:306682 |
| Parkinson Disease 1, Autosomal Dominant |
|
Parkinsonism, Dystonia, Resting tremor, Shuffling gait, Bradykinesia, Rigidity, Gait disturbance,... |
OMIM:168601 |
| Omenn Syndrome |
|
