Peroneus Tertius Muscle, Absence Of |
|
Foot dorsiflexor weakness |
OMIM:261400 |
Amyotrophic Lateral Sclerosis 3 |
|
Lower limb muscle weakness |
OMIM:606640 |
Episodic Muscle Weakness, X-Linked |
|
Muscle weakness |
OMIM:300211 |
Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport |
|
Muscle weakness |
OMIM:251945 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Muscle weakness, Slurred speech, Gait ataxia |
ORPHA:401953 |
Episodic Ataxia, Type 7 |
|
Muscle weakness, Episodic ataxia |
OMIM:611907 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle weakness, Proximal muscle weakness |
OMIM:616231 |
Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
Episodic Ataxia, Type 8 |
|
Ataxia, Muscle weakness, Intention tremor, Slurred speech, Episodic ataxia |
OMIM:616055 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:619491 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal muscle weakness, Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic gait, Muscle weakness, Spastic paraplegia, Babinski sign |
OMIM:612539 |
Athrombia, Essential |
|
Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:209050 |
Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal muscle weakness, Fasciculations, Proximal muscle weakness, Tremor |
OMIM:182980 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
Episodic Ataxia, Type 1 |
|
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia |
OMIM:160120 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Ataxia, Tremor, Muscle weakness, Babinski sign |
OMIM:611105 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ristocetin-induced platelet aggregation, Impai... |
OMIM:619267 |
Dystonia 31 |
|
Parkinsonism, Leg dystonia, Difficulty walking, Generalized dystonia, Writer's cramp, Abnormal po... |
OMIM:619565 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
Spinocerebellar Ataxia Type 38 |
|
Distal muscle weakness, Gait ataxia, Tremor |
ORPHA:423296 |
Pulmonary Blastoma |
|
Dyspnea, Fever, Cough, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements |
OMIM:611092 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
Sandhoff Disease, Adult Form |
|
Spasticity, Proximal muscle weakness in lower limbs, Focal dystonia, Tremor, Upper limb muscle we... |
ORPHA:309169 |
Primary Dystonia, Dyt13 Type |
|
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... |
ORPHA:98807 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... |
OMIM:619271 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal muscle weakness, Tremor |
OMIM:614369 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Distal muscle weakness, Gait ataxia, Tremor, Myoclonus |
OMIM:615957 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect, Lymphopenia, Neutropenia |
OMIM:614868 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:607688 |
Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... |
OMIM:173590 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Parkinsonism, Ataxia, Oculogyric crisis, Abnormal autonomic nervous system physiology, Dysdiadoch... |
OMIM:618049 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
Facial Onset Sensory And Motor Neuronopathy |
|
Muscle weakness, Fasciculations |
ORPHA:85162 |
Tuberculosis |
|
Cough, Fever, Weight loss |
ORPHA:3389 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... |
OMIM:614561 |
Monomelic Amyotrophy |
|
Tremor, Muscle weakness, Fasciculations |
ORPHA:65684 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Muscle weakness |
OMIM:254100 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Generalized muscle ... |
ORPHA:98810 |
Glanzmann Thrombasthenia 1 |
|
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impai... |
OMIM:273800 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia |
OMIM:618425 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Generalized muscle weakness, Hand tremor |
OMIM:609153 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Lower limb muscle weakn... |
OMIM:607317 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Spinocerebellar Ataxia 18 |
|
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria, Limb muscle weakness |
OMIM:607458 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Muscle weakness, Fasciculations |
OMIM:615048 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Myoclonic spasms, Inguinal hernia, Limb hypertonia, Clonus, Abnormal autonomic nervous system phy... |
OMIM:614498 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... |
OMIM:616053 |
Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
External ophthalmoplegia, Fatigable weakness, Proximal muscle weakness |
OMIM:254190 |
Spinocerebellar Ataxia Type 31 |
|
Spasticity, Hearing impairment, Tremor, Gait ataxia, Impaired vibratory sensation |
ORPHA:217012 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Fever, Hyperventilation, Cough, Hypoxemia, Failure to thrive, Respirator... |
ORPHA:91359 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... |
ORPHA:314632 |
Developmental And Epileptic Encephalopathy 78 |
|
Spasticity, Cerebral palsy, Hypothermia, Chorea |
OMIM:618557 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus |
OMIM:616921 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Ataxia, Proximal muscle weakness, External ophthalmoplegia, Distal muscle weakness, Tremor |
OMIM:618637 |
Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Apneic episodes in infancy |
OMIM:610006 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations, Muscle weakness, Limb muscle weakness |
OMIM:619141 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
Multiple System Atrophy |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Autonomic erectile dysfunction, Progressiv... |
ORPHA:102 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Ataxia, Tremor |
OMIM:615945 |
N-Acetylaspartate Deficiency |
|
Unsteady gait, Broad-based gait, Abnormal repetitive mannerisms, Decreased body weight, Truncal a... |
OMIM:614063 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal autonomic nervous system physiology, Hypothermia, Myoclonus, Growth delay |
ORPHA:168593 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Limb ataxia, Progressive cerebellar ataxia, Neck muscle weakness, Pseudobulbar paral... |
ORPHA:276193 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Spinal Muscular Atrophy, Type Ii |
|
Muscle weakness, Tongue fasciculations, Hand tremor |
OMIM:253550 |
Dystonia 24 |
|
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia |
OMIM:615034 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Abnormal pattern of respiration |
ORPHA:29822 |
Spinocerebellar Ataxia Type 28 |
|
Spasticity, Parkinsonism, Limb ataxia, Limb dystonia, Kinetic tremor, Ophthalmoparesis, Rigidity,... |
ORPHA:101109 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Ankle clonus, External ophthalmoplegia, Tremor, Babinski sign, Truncal a... |
OMIM:615768 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Dystonia, Limb ataxia, Difficulty walking, Lower limb spasticity, Spastic dysarthria, Impaired pr... |
ORPHA:251282 |
Macrophagic Myofasciitis |
|
Myalgia, Generalized muscle weakness, Fatigue, Arthralgia |
ORPHA:592 |
Barth Syndrome |
|
Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
Dystonia 23 |
|
Limb dystonia, Torticollis, Axial dystonia, Writer's cramp, Head tremor, Myoclonus |
OMIM:614860 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... |
ORPHA:99657 |
Migraine, Familial Hemiplegic, 1 |
|
Fever, Ataxia, Hemiparesis, Hemiplegia, Tremor |
OMIM:141500 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bronchospasm, Cardiorespiratory arrest, Apnea, Hypothermia, Abnormal pattern of respiration, Stridor |
OMIM:608800 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Neck muscle weakness, Pseudobulbar paralysis, Intention tremor, Babinski sig... |
OMIM:613908 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Optic... |
ORPHA:329284 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Lower limb muscle weakness, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lowe... |
OMIM:600363 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Neck muscle weakness, Chorea, Myoclonus, Resting tremor, Involuntary movements, ... |
OMIM:606703 |
Multiple System Atrophy, Parkinsonian Type |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Autonomic erectile dysfunction, Progressiv... |
ORPHA:98933 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... |
OMIM:128230 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:614203 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Dysdiadochokinesis, Abnormal auditory evoked potentials, Abnormality ... |
ORPHA:99027 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Poor head control, Dystonia, Tremor |
OMIM:619651 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Pro... |
OMIM:615888 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Respiratory insufficiency, Hypothermia |
OMIM:614654 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... |
ORPHA:363710 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Low-set ears, Epicanthus, Ataxia, Failure to thrive, Tremor |
OMIM:618951 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Hemiballismus, Tremor, Chorea |
ORPHA:494526 |
Glanzmann Thrombasthenia |
|
Impaired thrombin-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
ORPHA:849 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Failure to thrive, Hypothermia, Respira... |
OMIM:245400 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spasticity, Clonus, Progressive spastic paraplegia, Abnormal autonomic nervous system physiology,... |
ORPHA:139578 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Ataxia, Falls, Bruxism, Chorea, Abnormal repetitive mannerisms, Dystonia, Paro... |
OMIM:619150 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Poor head control |
OMIM:619561 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:614201 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Limb muscle weakness, Distal muscle weakness, Tremor, Gait ataxia, Foot dorsiflexor weakn... |
OMIM:618387 |
Dystonia 16 |
|
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia |
ORPHA:210571 |
Huntington Disease-Like 1 |
|
Frequent falls, Simultanapraxia, Gait disturbance, Clumsiness, Chorea, Bradykinesia, Gait ataxia,... |
ORPHA:157941 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Multiple System Atrophy, Cerebellar Type |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb ataxia, Autonomic erectile dysfunctio... |
ORPHA:227510 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... |
ORPHA:420485 |
Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Broad-based gait |
OMIM:617862 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Shoulder girdle muscle weakness, Proximal muscle weakness, Neck muscle weakness |
OMIM:619477 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Gait disturbanc... |
ORPHA:216873 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Tremor, Proximal musc... |
ORPHA:276435 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Narrow palpebral fissure, Inability to walk, Tremor, Waddling gait, Macrotia |
OMIM:616269 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia, Tachypnea |
OMIM:616501 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Orom... |
OMIM:128100 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia |
OMIM:608636 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
Baker-Gordon Syndrome |
|
Athetoid cerebral palsy, Hyperkinetic movements, Epicanthus, Inability to walk, Ataxia, Abnormal ... |
OMIM:618218 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Intention tremo... |
ORPHA:314978 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Low-set ears, Posteriorly rotated ears, Failure to thrive, Gait ataxia... |
OMIM:609425 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia, Impaired dista... |
OMIM:610245 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... |
OMIM:606324 |
Parkinson-Dementia Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Ophthalmoparesis, Tremor |
OMIM:260540 |
Permanent Congenital Hypothyroidism |
|
Short stature, Umbilical hernia, Tetraplegia, Hypothermia |
ORPHA:226292 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Inability to walk, Gait disturbance, Generalized dystonia, Tip-toe ga... |
ORPHA:216866 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Inability to walk |
OMIM:606053 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Platelet... |
OMIM:187800 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Spasticity, Limb ataxia, Abnormal autonomic nervous system physiology, Abnormality of extrapyrami... |
OMIM:610743 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Ataxia, Upslanted palpebral fissure, Tremor, Gait ataxia, Large fleshy ears, Myoclo... |
OMIM:619092 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Heat intolerance, Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Progressive sensorineural hearing impairment, Abnormal posturing, Postlingual... |
OMIM:304700 |
Dystonia 7, Torsion |
|
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... |
OMIM:602124 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... |
ORPHA:98762 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Spasticity, Inability to walk, Abnormal repetitive mannerisms, Involuntary movements, Dystonia |
OMIM:617820 |
Corticobasal Syndrome |
|
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... |
ORPHA:454887 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus, Writer's cramp |
OMIM:159900 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Ataxia, Abnormal platelet function |
ORPHA:2585 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Gowers sign, Respiratory insufficiency due to muscle weakness, Proximal muscle we... |
OMIM:159950 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Torsion dystonia, Blepharospasm |
OMIM:224500 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Recurrent fever, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
Tetanus |
|
Fever, Spasticity of pharyngeal muscles, Autonomic bladder dysfunction, Abnormal autonomic nervou... |
ORPHA:3299 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Ataxia, Optic disc pallor, Abnormal autonomic nervous system p... |
ORPHA:97229 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia |
OMIM:615924 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Bulbar palsy, Fasciculations, Limb muscle weakness |
OMIM:313200 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Spinocerebellar Ataxia 7 |
|
Spasticity, Supranuclear ophthalmoplegia, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Gait disturbance, Retrocollis, Tip-toe gait, Tremor, Oromandibular dysto... |
OMIM:617284 |
Fatal Familial Insomnia |
|
Fever, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus, Weight loss |
OMIM:600072 |
Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time |
OMIM:173420 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Distal muscle weakness, Tremor, Foot dorsiflexor weakness, Babinski sign, Hypertonia,... |
OMIM:609260 |
Spinocerebellar Ataxia 12 |
|
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... |
OMIM:604326 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hypoventilation, Sleep apnea, Recurrent pneumonia, Hypothermia, Abnormality of temperature... |
OMIM:618493 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Hypothermia |
ORPHA:226313 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... |
ORPHA:521406 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Weight loss |
OMIM:605543 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Parkinsonism, Gait disturbance, Hemiplegia, Titubation, Chorea, Bradykinesia, Gait ataxia, Abnorm... |
ORPHA:225147 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Muscle weakness, Fasciculations |
OMIM:614808 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia |
OMIM:605909 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Inability to walk, Spastic diplegia |
OMIM:617830 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Hypothermia, Hyperventilation |
OMIM:618775 |
Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Cold paresis, Fasciculations |
OMIM:602440 |
Foxg1 Syndrome |
|
Spasticity, Hyperkinetic movements, Stereotypical hand wringing, Inability to walk, Difficulty wa... |
ORPHA:561854 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Dysmetria |
OMIM:617917 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Proximal muscle weakness, Tremor, Myoclon... |
ORPHA:139485 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Obesity |
OMIM:257500 |
Caribbean Parkinsonism |
|
Parkinsonism, Weakness due to upper motor neuron dysfunction, Apraxia, Progressive gait ataxia, A... |
ORPHA:97355 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Low-set ears, Difficulty walking, Failure to thrive, Tremor, Spastic paraplegia, Babinski sign, B... |
ORPHA:477673 |
Pontocerebellar Hypoplasia, Type 11 |
|
Spasticity, Limb ataxia, Inability to walk, Poor coordination, Ataxia, Difficulty walking, Macrot... |
OMIM:617695 |
Mitchell Syndrome |
|
Clumsiness, Abnormal autonomic nervous system physiology |
OMIM:618960 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... |
OMIM:613135 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Abnormal ... |
ORPHA:282166 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb dystonia, Torticollis, Limb hypertonia, Blepharospasm, Limb tremor, Oculogyric crisis, Athet... |
OMIM:608643 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Abnormal repetitive mannerisms, Broad-based gait, Tremor |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscle weakness |
OMIM:159050 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:618709 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Gr... |
ORPHA:70594 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor, Shuffl... |
ORPHA:306692 |
Progressive Nodular Histiocytosis |
|
Cachexia, Fever |
ORPHA:158022 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Abnormal repetitive mannerisms, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Spinocerebellar Ataxia Type 3 |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Abnormality of extrapyramidal... |
ORPHA:98757 |
Menkes Disease |
|
Intrauterine growth retardation, Short stature, Hypothermia, Babinski sign, Hypertonia |
OMIM:309400 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... |
OMIM:213600 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Spasticity, Delayed puberty, Ataxia, Clumsiness, Spastic dysarthria, Postural tremor, Autonomic b... |
ORPHA:447896 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Ataxia, Tremor |
ORPHA:101078 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Unsteady gait, Ankle clonus, Bruxism, Tremor, Bradykinesia, ... |
OMIM:617435 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... |
ORPHA:240103 |
Charcot-Marie-Tooth Disease And Deafness |
|
Ankle weakness, Distal muscle weakness, Tremor, Foot dorsiflexor weakness, Limb muscle weakness |
OMIM:118300 |
Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus |
ORPHA:98763 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Limb dystonia, Parkinsonism, Fever, Ataxia, Postural tremor, Oculogyric crisis, Generalized dysto... |
ORPHA:101150 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Progressive cerebellar ataxia, Vestibular areflexia, Dysdiadochokinesis, Distal muscle weakness, ... |
ORPHA:504476 |
Urocanase Deficiency |
|
Ataxia, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria |
OMIM:276880 |
Myositis |
|
Proximal muscle weakness |
OMIM:160750 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Speech apraxia, Downslanted palpebral fissures, Abnormal repetitive... |
OMIM:613670 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... |
OMIM:155100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Parkinsonism, Gait disturbance, Falls, Impaired tandem gait, Apraxia, Rigidity, Brady... |
OMIM:300423 |
Amish Nemaline Myopathy |
|
Tremor, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness |
ORPHA:98902 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Muscle weakness, Postural tremor, Ataxia |
OMIM:300619 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Spasticity, Small for gestational age, Epicanthus, Low-set ears, Bilateral ptosis, Upslanted palp... |
ORPHA:352490 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Hypothermia |
ORPHA:95717 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Gait disturbance, Ataxia, Hearing impairment, Tremor |
ORPHA:101075 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Fever |
OMIM:619175 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... |
ORPHA:397946 |
Spinocerebellar Ataxia 50 |
|
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Hearing impairment, Myoclonus, Action trem... |
OMIM:620158 |
Infantile Neuroaxonal Dystrophy |
|
Spasticity, Abnormal pyramidal sign, Progressive spasticity, Ataxia, Abnormal autonomic nervous s... |
ORPHA:35069 |
Machado-Joseph Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Facial-lingual fasc... |
OMIM:109150 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Abnormal repetit... |
OMIM:618917 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Spasticity, Low-set ears, Inability to walk, Bruxism, Tremor, Abnormal repetitive mannerisms |
OMIM:618718 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
ORPHA:369873 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Parkinson Disease 21 |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:616361 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Dysto... |
OMIM:300894 |
Developmental And Epileptic Encephalopathy 64 |
|
Long eyelashes, Epicanthus, Hemiparesis, Inability to walk, Limb hypertonia, Bruxism, Paroxysmal ... |
OMIM:618004 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Spasticity, Overweight, Difficulty walking, Progressive spastic paraplegia, Spastic dysarthria, W... |
ORPHA:280763 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex |
OMIM:613608 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Dysdiadochoki... |
OMIM:617145 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Small for gestational age, Ataxia, Limb hypertonia, Rigidity, Tremor, Recurrent fev... |
OMIM:261640 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal muscle weakness, Gait ataxia, Upper limb postural tremor, Action tremor |
OMIM:180800 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Tremor, Upper limb muscle weakness, Fasciculations, Cold pa... |
ORPHA:99965 |
Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Cachexia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria |
OMIM:618093 |
Meningococcal Meningitis |
|
Neonatal respiratory distress, Hypothermia, Fever |
ORPHA:33475 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Progressive distal muscle weakness, Tremor, Foot dorsifl... |
ORPHA:101077 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... |
OMIM:617443 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Muscle weakness, Gait ataxia, Ophthalmoplegia, Po... |
ORPHA:1170 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, Short stepped shuffling gait, Spastic dy... |
ORPHA:240094 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Chorea, Resting tremor, Myoclonus, Dystonia |
ORPHA:324588 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Nonprogressive cerebellar ataxia, Clonus, Dysdiadochokinesis, Intention tremor, Babinski sign, Dy... |
OMIM:301310 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia |
OMIM:612527 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Small for gestational age, Ataxia, Tremor |
OMIM:278780 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Difficulty walking, Lateral ventricle dilatation, Tremor, Bradykinesia... |
ORPHA:306669 |
Leukodystrophy, Hypomyelinating, 12 |
|
Spasticity, Abnormal autonomic nervous system physiology, Flexion contracture, Optic atrophy, Tem... |
OMIM:616683 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Short stature, Tremor, Hypertonia |
ORPHA:1368 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Involuntary movements |
OMIM:617171 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Unsteady gait, Ataxia, Titubation, Tremor, Compulsive behaviors, Dysmetria |
OMIM:619405 |
Dystonia 16 |
|
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Retrocollis, Postural tremor, Generalized d... |
OMIM:612067 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Overweight, Respiratory distress, Episodic tachypnea, Hypothermia, Pne... |
ORPHA:26793 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms |
OMIM:617787 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Respiratory insufficiency, Failure to thrive, Central hypoventilation, Apnea |
OMIM:300673 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Parkinsonism, Abnormal vestibulo-ocular reflex, Abnormal cranial nerve morphology, At... |
ORPHA:247234 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... |
OMIM:619924 |
Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... |
ORPHA:391411 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Abnormal autonomic nervous syst... |
OMIM:616840 |
Atypical Rett Syndrome |
|
Spasticity, Impaired pain sensation, Limb myoclonus, Inability to walk, Gait disturbance, Apraxia... |
ORPHA:3095 |
Alexander Disease Type Ii |
|
Spasticity, Ataxia, Abnormal autonomic nervous system physiology, Rigidity, Palatal tremor, Babin... |
ORPHA:363722 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Frequent falls, Limb ataxia, Distal muscle weakness, Tremor, Gait ataxia |
OMIM:616719 |
Undifferentiated Pleomorphic Sarcoma |
|
Fever, Weight loss |
ORPHA:2023 |
Asperger syndrome susceptibility, X-linked 2 |
|
Abnormal repetitive mannerisms |
OMIM:300497 |
Asperger Syndrome, Susceptibility To, 1 |
|
Abnormal repetitive mannerisms |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Abnormal repetitive mannerisms |
OMIM:608631 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Bradykinesia, Resting tremor, Babinski... |
ORPHA:363654 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Hypothermia, Pneumonia |
OMIM:601005 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Small for gestational age, Gait disturbance, Ataxia, Abnormal pinna morphology, Failure to thrive... |
OMIM:614104 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Hypothermia, Respiratory failure, Failure to thrive |
OMIM:618329 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Bruxism, Apraxia, Shuffling gait, Tremor, Bradykinesia... |
OMIM:300055 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Bilateral ptosis, Difficulty walking, Oculogyric crisis, Tremor, Dystonia |
ORPHA:330050 |
Autism, Susceptibility To, X-Linked 3 |
|
Abnormal repetitive mannerisms |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Abnormal repetitive mannerisms |
OMIM:300425 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Lower limb muscle weakness, Tr... |
ORPHA:90117 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Muscle weakness, Ataxia, Tremor |
ORPHA:99014 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Long eyelashes, Inability to walk, Synophrys, Prominent ear helix, Thick eyebrow, Myoclonus, Larg... |
ORPHA:411986 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Frequent falls, Limb myoclonus, Eyelid myoclonus, High-frequency sensorineural hearing impairment... |
ORPHA:2590 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Abnormal pyramidal sign, Inability to walk, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Ptos... |
OMIM:614831 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614251 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive spasticity, Progressive cerebellar ataxia, Unsteady gait, Difficulty walking, Clumsin... |
ORPHA:137898 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Abnormal autonomic nervous system physiology |
OMIM:156310 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Epicanthus, Protruding ear, Bruxism, Downslanted palpebral fissures, Tremor, Highly... |
OMIM:618342 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Ataxia, Cogwheel rigidity, Motor tics, Chorea, Bradykinesia, Intention tremor, Myoc... |
OMIM:619725 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal movement disorder, Proximal muscle weakness, Chorea, Resting t... |
ORPHA:401768 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... |
ORPHA:53351 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Heat intolerance, Camptodactyly of finger, Abnormality of temperature regulation, Abnormal nerve ... |
ORPHA:2926 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Sensorineura... |
OMIM:610185 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Abnormal repetitive mannerisms, Difficulty walking, Failure to thrive |
OMIM:617393 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... |
OMIM:606159 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, Poor head control, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, P... |
ORPHA:79263 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Spinocerebellar Ataxia 15 |
|
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Decreased amplitude of sensory a... |
OMIM:619279 |
Alexander Disease |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clonus, Abnormal autonomic nervous system physiology... |
ORPHA:58 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Focal d... |
ORPHA:99750 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Impaired tandem gait, Tremor, Myoclonus, Lower limb spasticity, Dysmetria |
OMIM:619028 |
Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormal autonomic nervous system physiology, ... |
ORPHA:171695 |
Autism |
|
Abnormal repetitive mannerisms |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Abnormal repetitive mannerisms |
OMIM:607373 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:617836 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait disturbance, Rigidity, Tremor, Gait ataxia, Dysmetria |
OMIM:618090 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Ataxia, Loss of ambulation, Tremor, Myoclonus |
OMIM:614018 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Ataxia, Proximal muscle weakness, Tremor, Myoclonus |
OMIM:612016 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Low-set ears, Long eyelashes, Epicanthus, Protruding ear, Synophrys, Downslanted palpebral fissur... |
ORPHA:480907 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal muscle weakness, Tremor |
OMIM:607734 |
Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... |
ORPHA:99 |
Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Immotile sperm, Infertility, Bronchiectasis, Recurrent sinu... |
OMIM:618449 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Gait ataxia, Abnormal autonomic nervous system physiology, Arthrogryposis multiplex congenita, Ag... |
OMIM:243180 |
Parkinson Disease, Late-Onset |
|
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Resti... |
OMIM:168600 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Malignant hyperthermia, Torticollis |
OMIM:217150 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Abnormal pinna morphology, Ataxia, Tremor |
OMIM:300983 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... |
OMIM:615157 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Obsessive-compulsive trait, Abnormality of pain sensation, Gait disturbance, Poor coordination, A... |
ORPHA:544254 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria |
OMIM:213200 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Spasticity, Frequent falls, Progressive cerebellar ataxia, Fever, Gait ataxia, Intention tremor, ... |
ORPHA:466794 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Sudden episodic apnea, Hypothermia |
ORPHA:159 |
Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Muscle weakness |
OMIM:254950 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms |
OMIM:300271 |
Posttransplant Acute Limbic Encephalitis |
|
Myoclonus, Ataxia, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:163921 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hypothermia, Fever |
ORPHA:292 |
Developmental And Epileptic Encephalopathy 6B |
|
Hyperkinetic movements, Inability to walk, Ataxia, Chorea, Myoclonus, Abnormal repetitive manneri... |
OMIM:619317 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Fever |
ORPHA:139436 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Inability to walk, Failure to thrive, Gait ataxia, Macrotia, Abnormal rep... |
DECIPHER:45 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... |
OMIM:615481 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Oculomotor nerve palsy |
ORPHA:79234 |
Christianson Syndrome |
|
Dystonia, Cachexia, Thick eyebrow, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Truncal... |
ORPHA:85278 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Fever, Hyperventilation, Apnea, Failure to thrive, Hypothermia, Episodic respiratory dis... |
ORPHA:255210 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... |
ORPHA:444463 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Parkinsonism, Gait disturbance, Ataxia, Oculogyric crisis, Shuffling gait, Dysdiad... |
ORPHA:352649 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Abnormal posturing, Failure to thrive, Tachypnea |
OMIM:614857 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Rigidity, Tremor, Recurrent fever, Choreoathetosis, Dyst... |
OMIM:233910 |
Urocanic Aciduria |
|
Gait ataxia, Action tremor, Truncal ataxia, Ataxia |
ORPHA:210128 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Dystonia, Ataxia, Loss of ambulation, Tremor, Lower limb spasticity, Dysmetria |
OMIM:617916 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Spasticity, Abnormal pyramidal sign, Limb ataxia, Hemiparesis, Ataxia, Abnormal autonomic nervous... |
OMIM:105210 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Ataxia, Failure to thrive, Tremor, Myoclonus |
OMIM:616494 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tremor, Muscle weakn... |
ORPHA:96 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Gait disturbance, Rigidity, Myoclonus, Abnormal repetitive mannerisms, Babinski sign, Dystonia |
OMIM:600795 |
Hsd10 Disease |
|
Gait disturbance, Ataxia, Rigidity, Hearing impairment, Tremor, Myoclonus, Choreoathetosis, Spast... |
ORPHA:391417 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Low-set ears, Epicanthus, Progressive spasticity, Inability to walk, Ataxia, Lower limb spasticit... |
OMIM:300260 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Frequent falls, Distal sensory impairment, Gait disturbance, Hand tremor, Difficulty walking, Par... |
OMIM:302800 |
Perry Syndrome |
|
Weight loss, Central hypoventilation |
ORPHA:178509 |
Radio-Tartaglia Syndrome |
|
Narrow palpebral fissure, Low-set ears, Epicanthus, Long eyelashes, Conductive hearing impairment... |
OMIM:619312 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Hypothermia |
ORPHA:95716 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... |
OMIM:612736 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal alpha granule content, Impaired platelet aggregation, Thrombocytopenia, Abnormal dense g... |
OMIM:601399 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Abnormal autonomic nervous system physiology, Fever, Myoclonus |
ORPHA:83601 |
Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Postural tremor, External ophthalmoplegia, Tremor |
OMIM:619790 |
Spinocerebellar Ataxia 29 |
|
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Truncal titubation, Dysdiado... |
OMIM:117360 |
Dopa-Responsive Dystonia |
|
Parkinsonism, Inability to walk, Leg dystonia, Poor coordination, Gait disturbance, Difficulty wa... |
ORPHA:255 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... |
OMIM:617514 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Autonomic erectile dysfunction, Ataxia, Pseudobulbar paralysis, Autonomic bladder dys... |
OMIM:169500 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Bruxism, Bilateral sensorineural hearing impairment, Tremor, Ptosis, Choreoathetosis, Dys... |
OMIM:619422 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Abnormal autonomic nervous system physiology, Fever |
ORPHA:2483 |
Sneddon Syndrome |
|
Tremor, Muscle weakness, Hemiparesis, Chorea |
ORPHA:820 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Unsteady gait, Ataxia, Limb hypertonia, Difficulty walking, Downslanted palpebral fis... |
ORPHA:442835 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Tremor, Gait ataxia, Akinesia, Tr... |
ORPHA:98764 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia |
OMIM:619738 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Abnormal repetitive mannerisms, Spastic tetraplegia, Hypertonia |
OMIM:615282 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Inability to walk, Head titubation, Rigidity, Tremor, Bradykinesia, Gai... |
OMIM:618877 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Difficulty walking, Dystonic gait, Titubation, Abnor... |
ORPHA:280219 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Hyperkinetic movements, Overweight, Gait disturbance, Tremor, Upper limb spasticity, Macrotia, Ab... |
ORPHA:457240 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Spasticity, Oromotor apraxia, Abnormal autonomic nervous system physiology, Optic atrophy, Growth... |
ORPHA:466934 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Limb ataxia, Ataxia, Vestibular areflexia, Abnormal autonomic nervous system physiology, Gait ata... |
OMIM:614575 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia |
OMIM:603585 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Fever, Cogwheel rigidity, Paraparesis, Tru... |
OMIM:607483 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Upslanted palpebral fissure, Hearing impairment, Macrotia, Abnormal repetitive... |
OMIM:619877 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Limb ataxia, Oculomotor apraxia, Unsteady gait, Ataxia, Clumsiness, Postural tremor, Truncal titu... |
OMIM:609270 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Impaired vibration sensation at ankles, Unsteady gait, Ataxia, Spastic a... |
OMIM:616795 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced plate... |
OMIM:139090 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Inability to walk, Upslanted palpebral fissure, Lateral ventricle dilatation, Abnor... |
OMIM:613443 |
Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Ophthalmoparesis, Dysdiadochok... |
ORPHA:101 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Spasticity, Prominent antihelix, Difficulty walking, Broad-based gait, Upslanted palpebral fissur... |
OMIM:617807 |
4Q21 Microdeletion Syndrome |
|
Low-set ears, Long eyelashes, Synophrys, Hearing impairment, Tremor, Abnormal repetitive manneris... |
ORPHA:238750 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ptosis, Tremor, Myoclonus, Episodic ataxia, Agenesis of corpus callosu... |
OMIM:312170 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Polyminimyoclonus, First dorsal interossei muscle weakness, Vocal cord paresis,... |
OMIM:619574 |
Ciliary Dyskinesia, Primary, 29 |
|
Infertility, Bronchiectasis, Ciliary dyskinesia, Decreased nasal nitric oxide |
OMIM:615872 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Hypoventilation |
OMIM:618232 |
Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms |
DECIPHER:8 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia, Ataxia |
OMIM:617831 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Epicanthus, Bilateral ptosis, Synophrys, Bruxism, Upslanted palpebral fissure, Hearing impairment... |
OMIM:616351 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Distal sensory impairment, Gait disturbance, Ataxia, Parki... |
OMIM:606693 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Inability to walk, Ataxia, Failure to thrive, Tremor, Large fleshy ears, Hypertonia |
OMIM:619556 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Oculomotor apraxia, Ataxia, Progressive external ophthalmoplegia, Chorea, Tremor, Mu... |
OMIM:208920 |
Gerstmann-Straussler Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Lower limb muscle weakness, Apraxia, Rigidity, Tremor, Bra... |
OMIM:137440 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradyki... |
ORPHA:240085 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Apnea, Hypothermia, Tachypnea, Weight loss |
ORPHA:20 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Parkinsonism, Inability to walk, Gait disturbance, Clumsiness, Ankle c... |
OMIM:617013 |
Fragile X Tremor/Ataxia Syndrome |
|
Obsessive-compulsive trait, Parkinsonism, Impaired distal vibration sensation, Impaired tandem ga... |
OMIM:300623 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Neck muscle weakness, Tremor, Ophthalmoplegia, Limb muscle weakness |
OMIM:619473 |
Neuronal Intranuclear Inclusion Disease |
|
Tremor, Muscle weakness, Ataxia, Rigidity |
OMIM:603472 |
Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Dyspnea, Hypothermia |
ORPHA:230 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Muscle weakness, Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:617744 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Inability to walk, Ataxia, Broad-based gait, Generalized dystonia, Head ... |
OMIM:312080 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Synophrys, Abnormal repetitive mannerisms, Anteverted ears, Macrotia |
OMIM:615541 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Oculomotor apraxia, Ataxia, Short stature, Rigidity, Tremor, Optic atrophy, Choreoath... |
OMIM:612438 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Congenital Hypothyroidism |
|