Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypertonia, Hypomagnesemia, Maturity-onset diabetes of the young, Oculogyric crisis, Abnormal cir... |
ORPHA:1578 |
Acid-Labile Subunit Deficiency |
|
Reduced insulin like growth factor binding protein acid labile subunit concentration, Decreased s... |
OMIM:615961 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... |
OMIM:160120 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... |
ORPHA:210571 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... |
OMIM:213600 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... |
OMIM:261640 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Hemidystonia, Short stature, Abnormal pyramidal sign, Spastic tetraparesis, Spastic... |
OMIM:619052 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Growth delay, Bradykinesia, Tip-toe gait, Ankle clonus, Babinski sign, Rigidity, Frequent falls, ... |
ORPHA:100984 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... |
ORPHA:101150 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti... |
OMIM:618418 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia |
OMIM:618317 |
Infantile Dystonia-Parkinsonism |
|
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Oculogyric cris... |
ORPHA:238455 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Dystonia |
OMIM:617836 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity, Limb dystonia, Gene... |
OMIM:618824 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... |
ORPHA:248111 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturban... |
OMIM:615643 |
Dystonia 16 |
|
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... |
OMIM:612067 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
OMIM:609161 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Park... |
OMIM:607136 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Babinski sign, Parkinsonism, Falls... |
OMIM:617225 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... |
OMIM:617013 |
Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Hyperammonemia, Increased s... |
ORPHA:778 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... |
ORPHA:240085 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p... |
ORPHA:70594 |
Huntington Disease |
|
Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo... |
ORPHA:399 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:619279 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... |
ORPHA:97355 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin... |
OMIM:606159 |
Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... |
OMIM:613280 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Dys... |
OMIM:617384 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... |
OMIM:300055 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... |
OMIM:619911 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor |
OMIM:619862 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia |
ORPHA:329284 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... |
ORPHA:13 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Spastic Paraparesis And Deafness |
|
Tremor, Short stature, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Huntington Disease |
|
Rigidity, Gait ataxia, Bradykinesia, Chorea |
OMIM:143100 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism, Falls, Shuffling gait, Short stepped shuffling gait |
ORPHA:412066 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Babinski sign, Bradykinesia |
OMIM:619063 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait, Spasticity, Apraxia |
OMIM:221820 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking |
OMIM:615048 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction, Dystonia |
OMIM:500001 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Action tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykine... |
ORPHA:254886 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... |
ORPHA:157941 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Lower limb spasticity, Bradykinesia |
OMIM:618878 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Short stature, Spastic diplegia, Tremo... |
ORPHA:3124 |
Parkinson Disease 14, Autosomal Recessive |
|
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle ... |
OMIM:612953 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... |
OMIM:183090 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... |
ORPHA:289560 |
Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... |
OMIM:300623 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Hypothyroidism, Transie... |
ORPHA:98808 |
Neuroferritinopathy |
|
Leg dystonia, Decreased circulating ferritin concentration, Blepharospasm, Bradykinesia, Resting ... |
ORPHA:157846 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasci... |
ORPHA:98755 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Multiple System Atrophy |
|
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... |
ORPHA:102 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... |
ORPHA:240071 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Dyston... |
OMIM:601338 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Hypogonadism, Postnatal growth retardation, Dystonia, Central hypothyroidism |
OMIM:616113 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Childhood-Onset Nemaline Myopathy |
|
Slender build, Clumsiness, Bradykinesia, Difficulty walking, Waddling gait, Mildly elevated creat... |
ORPHA:171439 |
Adult-Onset Nemaline Myopathy |
|
Difficulty walking, Bradykinesia, Mildly elevated creatine kinase |
ORPHA:171442 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Failure to thrive, Bradykinesia, Dystonia |
OMIM:614924 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Li... |
ORPHA:227510 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... |
ORPHA:98933 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... |
OMIM:603516 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Machado-Joseph Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormality of extrapyramidal m... |
OMIM:109150 |
Perry Syndrome |
|
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia, Short stepped shuf... |
OMIM:168605 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Bradykinesia, Limb ataxia, Intention tremor, Babinski sign, Elevated circulating creatine kinase ... |
OMIM:258450 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo... |
OMIM:615768 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination |
ORPHA:36387 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... |
ORPHA:225147 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Short stature... |
OMIM:617284 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait |
OMIM:182920 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:614251 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Adult-Onset Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... |
ORPHA:199351 |
Manganese Poisoning |
|
Hypertonia, Akinesia, Bradykinesia, Abnormality of extrapyramidal motor function, Gait disturbanc... |
ORPHA:306682 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... |
OMIM:612736 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... |
OMIM:615924 |
Dravet Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Rigidity, Parkinsonism, Cog... |
ORPHA:33069 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... |
OMIM:607060 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Short stature, Decreased serum creatinine, Tremor, Growth delay, Intrauterine ... |
OMIM:617744 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Waisman Syndrome |
|
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait |
OMIM:311510 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Short stature |
OMIM:617862 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Short stature, Myoclonus, Titubation, Difficu... |
ORPHA:98768 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Short stature, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity |
OMIM:614947 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Hypothyroidism, Tremor, Frequent falls, Dystonia |
OMIM:619647 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Tremor, Spasticity, Growth delay |
OMIM:278780 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... |
ORPHA:276435 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Primary Progressive Freezing Gait |
|
Gait imbalance, Bradykinesia, Babinski sign, Rigidity, Frequent falls, Difficulty walking, Shuffl... |
ORPHA:75567 |
Postencephalitic Parkinsonism |
|
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Babinski si... |
ORPHA:97349 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... |
OMIM:618387 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:614018 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp... |
ORPHA:466722 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Short stature, Tremor, Gait ataxia, Spasticity, Unsteady gait, In... |
OMIM:213200 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... |
ORPHA:171695 |
Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait... |
OMIM:168601 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia |
OMIM:261630 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia |
OMIM:615530 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Rigidity, Gait dist... |
ORPHA:391417 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Bradykinesia, Rigidity, Falls, Tremor, Unsteady gait, Dystonia |
ORPHA:683 |
Hereditary Late-Onset Parkinson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Akinesia, Bradykinesia, Resting ... |
ORPHA:411602 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Bradykinesia, Limb ataxia, Rigidity, Spastic dysarthria, Gait ataxia, Spasticity, Unstead... |
ORPHA:98760 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Failure to thrive, Dystonia |
OMIM:619651 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Growth delay, Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculo... |
OMIM:612716 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ... |
ORPHA:309854 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Tremor, Elevated levels of... |
OMIM:614307 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tremor, Pancreatic islet-cell hyperplasia, Incre... |
ORPHA:276608 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Growth delay, Dysmetria, Tip-toe gait, Increased serum pyruvate, Hemiparesis, Spasticity, Hyperal... |
OMIM:251950 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retardation, Failure... |
OMIM:232700 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypertonia, Ataxia, Failure to thrive, Bradykinesia, Hyperthyroidism, Resting tremor, Elevated ci... |
ORPHA:254892 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Slowed slurred speech, Bradykinesia |
OMIM:619827 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Short stature, Babinsk... |
ORPHA:397946 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... |
OMIM:617145 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance |
OMIM:210000 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... |
ORPHA:210128 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia... |
OMIM:157640 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign, Chorea,... |
OMIM:610217 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsoni... |
OMIM:234200 |
4H Leukodystrophy |
|
Ataxia, Upper motor neuron dysfunction, Decreased response to growth hormone stimulation test, Dy... |
ORPHA:289494 |
Galactosemia |
|
Gait imbalance, Failure to thrive, Ataxia, Action tremor, Increased level of galactitol in plasma... |
ORPHA:352 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature, Increased insulin like gro... |
OMIM:619489 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... |
OMIM:233910 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... |
OMIM:619405 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... |
ORPHA:3095 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Elevated circulating creatine kinase concentration, Inability to walk, Limb fasciculations |
ORPHA:90117 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Tremor, Short stature |
ORPHA:1368 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperinsulinemia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia,... |
ORPHA:363400 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigidity, Hypothyroidism, Gait d... |
ORPHA:93256 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Dopa-Responsive Dystonia |
|
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... |
ORPHA:255 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Short stature, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Delayed menarche, Oculogyric crisis, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
Young-Onset Parkinson Disease |
|
Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity, Dystonia |
ORPHA:2828 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Cystathioninuria |
|
Tremor, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Shuffling gait, Obesity, L... |
ORPHA:3077 |
Urocanase Deficiency |
|
Tremor, Ataxia, Short stature |
OMIM:276880 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... |
ORPHA:2590 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking |
ORPHA:477673 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Loss of ambulation, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Babinski sig... |
OMIM:607694 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity |
OMIM:616494 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign,... |
OMIM:614831 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Reduced haptoglobin level, Dystonia |
OMIM:612126 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... |
OMIM:208920 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... |
ORPHA:240094 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Paragangliomas 1 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... |
OMIM:168000 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Type II diabetes mellitus, Short stature, Gait disturbance, Tremor, Sp... |
ORPHA:100 |
Paragangliomas 3 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Ad... |
OMIM:605373 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ... |
ORPHA:48818 |
Kufor-Rakeb Syndrome |
|
Hypertonia, Lingual dystonia, Blepharospasm, Bradykinesia, Oculogyric crisis, Babinski sign, Park... |
ORPHA:306674 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Growth d... |
OMIM:619738 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... |
ORPHA:453533 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy |
OMIM:619470 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Growth delay, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsin... |
OMIM:615673 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum insulin-like growth... |
OMIM:618985 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Rigidity, Parkinsonism, Fall... |
OMIM:609454 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Periodic paralysis, Tr... |
OMIM:613239 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556037 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Tremor |
OMIM:146500 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... |
ORPHA:96 |
Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Fall... |
OMIM:601104 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Ataxia, Decreased serum testosterone concentration, Short stature, Tremor, Dec... |
OMIM:201100 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Short stature, Babinski sign, Spastic paraplegia, Tremor, Gait disturbanc... |
OMIM:616586 |
Choreoacanthocytosis |
|
Laryngeal dystonia, Chorea, Falls, Limb dystonia, Weight loss, Slurred speech, Hypertonia, Loss o... |
ORPHA:2388 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations |
OMIM:159950 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Tremor |
OMIM:610185 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia |
ORPHA:98764 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556030 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Unsteady gait, Oculomotor apraxia |
OMIM:614867 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:139485 |
Pelizaeus-Merzbacher Disease |
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Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Short stature, Intention tremor, ... |
OMIM:312080 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
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Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat... |
ORPHA:352649 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
Pyruvate Dehydrogenase Deficiency |
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Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... |
ORPHA:765 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
Insulinoma |
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Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Hypertonia, Short stature, Gait disturbance, Tremor, Type I diabetes mellitus |
ORPHA:1192 |
Perry Syndrome |
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Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Developmental And Epileptic Encephalopathy 42 |
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Hypertonia, Ataxia, Tremor, Athetosis |
OMIM:617106 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... |
OMIM:302800 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Thrombocytopenia 5 |
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Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Ataxia, Dysmetria, Short stature, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculo... |
ORPHA:1170 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
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Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Failure to thrive, Ataxia, Short stature, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficult... |
ORPHA:442835 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Ataxia, Dysmetria, Short stature, Intention tremor, Hypogonadotropic hypogonadism, Dysdiadochokin... |
OMIM:614381 |
Spinocerebellar Ataxia Type 21 |
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Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Intellectual Developmental Disorder, X-Linked 12 |
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Small for gestational age, Short stature, Increased body mass index, Hyperkinetic movements, Trun... |
OMIM:300957 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Elevated circulating creatine ... |
OMIM:614298 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Motor stereotypy, Decreased response to growth hormone stimulation test, Short stature, Hyperkine... |
ORPHA:457240 |
Myopathy, Mitochondrial, And Ataxia |
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Ataxia, Inability to walk, Hyperthyroidism, Limb ataxia, Dysmetria, Short stature, Dysdiadochokin... |
OMIM:617675 |
Spinocerebellar Ataxia 42 |
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Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, Spastic ataxia |
OMIM:616795 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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Akinesia, Increased serum pyruvate, Hypothyroidism, Hyperalaninemia, Growth delay |
OMIM:619147 |
Oculopharyngodistal Myopathy 3 |
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Tremor, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
Dystonia 13, Torsion, Autosomal Dominant |
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Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
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Failure to thrive, Ataxia, Inability to walk, Hypertonia, Tremor |
OMIM:619556 |
Spinocerebellar Ataxia, X-Linked 4 |
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Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Riboflavin Transporter Deficiency |
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Ataxia, Cachexia, Myoclonus, Tremor, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Hyperlysinemia |
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Argininuria, Failure to thrive, Hyperlysinemia, Clumsiness, Cystinuria, Dysmetria, Hyperammonemia... |
ORPHA:2203 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Paraparesis, Tremor, Ataxia, Gait disturbance |
ORPHA:99014 |
Diamond-Blackfan Anemia 4 |
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Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
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Akinesia, Short stature |
OMIM:618822 |
Ddost-Cdg |
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Failure to thrive, Short stature, Oromotor apraxia, Tremor, Primary hypothyroidism |
ORPHA:300536 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Ataxia, Decreased body weight, Postnatal growth retardation, Dysmetria, Short stature, Abetalipop... |
ORPHA:96180 |
Late-Infantile/Juvenile Krabbe Disease |
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Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... |
ORPHA:206443 |
Cln5 Disease |
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Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... |
ORPHA:228360 |
Oculopharyngodistal Myopathy 4 |
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Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... |
ORPHA:247585 |
Parkinson-Dementia Syndrome |
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Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Tremor, Intrauterine growth retardation, Dysmetria |
OMIM:615578 |
Mohr-Tranebjaerg Syndrome |
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Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:52368 |
Spinocerebellar Ataxia 21 |
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Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
OMIM:607454 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Tremor, Gait ataxia, S... |
OMIM:616505 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Parkinsonism, Frequent falls, Tremor, Difficulty walking, Mildly elevated creatine kinase, Fascic... |
ORPHA:329478 |
Ataxia-Telangiectasia |
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Failure to thrive, Ataxia, Inability to walk, Progressive cerebellar ataxia, Short stature, Eleva... |
OMIM:208900 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Failure to thrive, Ataxia, Hyperammonemia, Intention tremor, Small for gestational age, Neonatal ... |
OMIM:614052 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Akinesia, Intrauterine growth retardation |
OMIM:225790 |
Classic Phenylketonuria |
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Hemiplegia, Hypertonia, Tremor, Paraplegia, Hyperphenylalaninemia, Growth delay |
ORPHA:79254 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
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Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia |
ORPHA:529665 |
Spinocerebellar Ataxia 8 |
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Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination |
OMIM:608768 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Ataxia, Type II diabetes mellitus, Elevated circulating creatine kinase concentration, Tremor, Hy... |
ORPHA:79095 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Progressive cerebellar ataxia, Hyperthyroidism, Dysmetria, Short stature, Dysdiadochokinesis, Inc... |
ORPHA:502423 |
Methylmalonic Aciduria, Cbla Type |
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Failure to thrive, Hyperammonemia, Tremor, Hyperglycinemia, Methylmalonic acidemia, Lethargy |
OMIM:251100 |
Tay-Sachs Disease |
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Precocious puberty, Clumsiness, Laryngeal dystonia, Exaggerated startle response, Dysmetria, Incr... |
ORPHA:845 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Intrauter... |
OMIM:617710 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
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Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Oculomotor apraxia, Eyelid myoclonus |
OMIM:618060 |
Purine Nucleoside Phosphorylase Deficiency |
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Failure to thrive, Ataxia, Increased circulating inosine concentration, Spastic diplegia, Tetrapa... |
OMIM:613179 |
Non-Functioning Paraganglioma |
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Paraganglioma of head and neck, Paraganglioma, Tremor, Hypercalcemia, Weight loss, Vocal cord par... |
ORPHA:94080 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Ataxia, Inability to walk, Short stature, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:615356 |
Pyruvate Carboxylase Deficiency |
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Failure to thrive, Ataxia, Hyperlysinemia, Recurrent hand flapping, Tip-toe gait, Hyperammonemia,... |
ORPHA:3008 |
Argininemia |
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Postnatal growth retardation, Spastic paraparesis, Hyperammonemia, Hyperargininemia, Diaminoacidu... |
OMIM:207800 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Limb ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Abno... |
OMIM:606002 |
Lissencephaly Type Iii And Bone Dysplasia |
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Akinesia |
OMIM:601160 |
Pediatric-Onset Graves Disease |
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Failure to thrive, Graves disease, Increased circulating free T3, Hyperkinetic movements, Increas... |
ORPHA:525731 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... |
ORPHA:3226 |
Jaberi-Elahi Syndrome |
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Broad-based gait, Failure to thrive, Inability to walk, Dysmetria, Appendicular spasticity, Tremo... |
OMIM:617988 |
Dystonia 2, Torsion, Autosomal Recessive |
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Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Failure to thrive, Hypomethioninemia, Abnormality of extrapyramidal motor function, Homocystinuri... |
OMIM:277400 |
Multiple Pterygium Syndrome, Lethal Type |
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Akinesia, Intrauterine growth retardation |
OMIM:253290 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Ataxia, Loss of ambulation, Hypergonadotropic hypogonadism, Myoclonus, Elevated circulating creat... |
OMIM:607426 |
Arthrogryposis Multiplex Congenita 6 |
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Akinesia |
OMIM:619334 |
Fetal Akinesia Deformation Sequence |
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Akinesia, Intrauterine growth retardation |
ORPHA:994 |
Thyrotoxic Periodic Paralysis |
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Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia, Transient hypophosphatemia... |
ORPHA:79102 |
Wolfram Syndrome 1 |
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Testicular atrophy, Ataxia, Hypothyroidism, Tremor, Diabetes mellitus, Growth delay, Diabetes ins... |
OMIM:222300 |
Tetanus |
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Hypertonia, Opisthotonus, Elevated circulating creatine kinase concentration, Rigidity, Tremor, S... |
ORPHA:3299 |
Lethal Congenital Contracture Syndrome 2 |
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Akinesia |
OMIM:607598 |
Intrahepatic Cholestasis Of Pregnancy |
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Hyperbilirubinemia, Small for gestational age, Hypothyroidism, Tremor, Abnormal pineal melatonin ... |
ORPHA:69665 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Hypertonia, Ataxia, Action tremor, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign... |
ORPHA:99027 |
Myopathy, Congenital, Compton-North |
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Akinesia |
OMIM:612540 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia |
ORPHA:247234 |
Migraine, Familial Hemiplegic, 2 |
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Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia |
OMIM:602481 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Cockayne Syndrome Type 1 |
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Failure to thrive, Ataxia, Increased blood urea nitrogen, Gait disturbance, Tremor, Difficulty wa... |
ORPHA:90321 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Kallmann Syndrome |
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Ataxia, Hypogonadotropic hypogonadism, Anterior hypopituitarism, Gait disturbance, Tremor, Parapl... |
ORPHA:478 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Tremor, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Hemiplegia, Ataxia, Short stature, Abnormality of extrapyramidal motor function, Abnormal pyramid... |
OMIM:612199 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Hereditary Pheochromocytoma-Paraganglioma |
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Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Tremor, Adrenal phe... |
ORPHA:29072 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Intrauterine growth retardation |
OMIM:608013 |
Wilson Disease |
|
Hypoparathyroidism, Parkinsonism with favorable response to dopaminergic medication, Increased ci... |
OMIM:277900 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity |
OMIM:618527 |
Tsh-Secreting Pituitary Adenoma |
|
Central adrenal insufficiency, Periodic hypokalemic paresis, Increased circulating prolactin conc... |
ORPHA:91347 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Tremor, Hypercalcem... |
ORPHA:276621 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Brain abscess, Neutrophilia |
ORPHA:54251 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:91547 |
Alexander Disease |
|
Failure to thrive, Ataxia, Precocious puberty, Abnormal pyramidal sign, Chorea, Hypothyroidism, T... |
ORPHA:58 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Arthrogryposis Multiplex Congenita 5 |
|
Growth delay, Akinesia, Intrauterine growth retardation |
OMIM:618947 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Intrauterine growth retardati... |
OMIM:610505 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis |
ORPHA:1302 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circu... |
ORPHA:94093 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis |
ORPHA:1930 |
Adult-Onset Still Disease |
|
Neutrophilia, Leukocytosis, Splenomegaly |
ORPHA:829 |
African Trypanosomiasis |
|
Abnormality of the endocrine system, Akinesia, Abnormal prolactin level, Abnormality of renin-ang... |
ORPHA:3385 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis |
OMIM:617099 |
Von Hippel-Lindau Disease |
|
Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic end... |
ORPHA:892 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Leukocytosis |
ORPHA:36238 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Hypertonia, Rigidity, Spasticity, Tremor |
OMIM:176500 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Weight loss |
OMIM:164310 |
Sweet Syndrome |
|
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... |
ORPHA:3243 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Abscess, Neutrophilia, Splenomegaly |
OMIM:612852 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Dpagt1-Cdg |
|
Akinesia, Ataxia, Inability to walk |
ORPHA:86309 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly |
OMIM:260920 |
Familial Mediterranean Fever |
|
Neutrophilia, Leukocytosis, Splenomegaly |
OMIM:249100 |