Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... |
OMIM:160120 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... |
ORPHA:85292 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity, Flexion contracture |
OMIM:611105 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... |
ORPHA:401901 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Optic atrophy, Rigidity, Frequent f... |
ORPHA:216873 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... |
ORPHA:306692 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia |
ORPHA:247815 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... |
ORPHA:79262 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Dementia, Gait disturbance, Tremor by anatomical site, Cognitive i... |
ORPHA:98762 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Mental deterioration |
OMIM:616187 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... |
OMIM:615362 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor |
OMIM:300660 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Tetraparesis, Spasticit... |
OMIM:615924 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Aggressive be... |
OMIM:612953 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tre... |
OMIM:606438 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dementia, Limb myoclonus, Dystonia, Li... |
ORPHA:454887 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety |
OMIM:159900 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... |
OMIM:615768 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Optic atrophy, Dysmetria, Hamstring cont... |
OMIM:210000 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Spastic gait, Memory impairment, Rigidity |
ORPHA:401849 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
ORPHA:94122 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Progressive Myoclonic Epilepsy Type 1 |
|
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Hyperphenylalaninemia... |
OMIM:261630 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... |
ORPHA:314632 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Spinocerebellar Ataxia Type 28 |
|
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... |
ORPHA:101109 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:615048 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Dystonia, Limb hypertonia, Choreoathetosis, Cognitive impairment, Ataxia, Oculomoto... |
OMIM:617595 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
Candidiasis, Familial, 2 |
|
Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia,... |
ORPHA:251282 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor, Periodic paralysis |
OMIM:609153 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety |
OMIM:605909 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia |
ORPHA:94090 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety |
OMIM:141500 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Small for gestational age, Choreoathetosis, Progressive neurologic deteriorat... |
OMIM:261640 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Elevated circulating creatine kinase concentration, Eosinophilia, Difficulty walking |
OMIM:253600 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... |
ORPHA:240085 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Cachexia, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deteri... |
OMIM:618093 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Aggressive behavior, Stereotypy, Tremor, Spastic tetraparesis, Hyperactivity, Broa... |
OMIM:619470 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Ina... |
ORPHA:276435 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability |
OMIM:612126 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Dementia, Abnormal pyramidal sign |
OMIM:301840 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... |
OMIM:612716 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... |
OMIM:617145 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Ma... |
OMIM:164500 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Cognitive impairment, Abnormal pyramidal sign, Tremor, Ataxia, Incoordination, Uns... |
OMIM:614947 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
Uveal Melanoma |
|
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma |
ORPHA:39044 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... |
ORPHA:98763 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... |
ORPHA:98764 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia |
ORPHA:94086 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-reactive protein c... |
OMIM:607115 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxi... |
OMIM:607346 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Babinski sign, Decreased circulating ferritin concentration, Dementia, Dystonia, Rigidity, Choreo... |
OMIM:606159 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Myopathy, Spheroid Body |
|
Tremor, Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration |
OMIM:182920 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... |
OMIM:603554 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Parkinsonism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower ... |
ORPHA:3077 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
Epilepsy, Progressive Myoclonic, 6 |
|
Elevated circulating creatine kinase concentration, Myoclonus, Tremor, Ataxia, Difficulty walking |
OMIM:614018 |
Dystonia 16 |
|
Postural tremor, Parkinsonism, Involuntary movements, Gait disturbance, Cognitive impairment, Bra... |
OMIM:612067 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Pigmentary retinopathy |
OMIM:614307 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dementia, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal ... |
ORPHA:99750 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... |
ORPHA:71517 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... |
OMIM:300894 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Urocanic Aciduria |
|
Abnormal circulating histidine concentration, Ataxia, Truncal ataxia, Action tremor, Broad-based ... |
ORPHA:210128 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Saccharopinuria |
|
Hypercystinemia, Cognitive impairment, Hyperammonemia, Tremor, Abnormality of circulating enzyme ... |
ORPHA:3124 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
Mental Retardation, Autosomal Recessive 48 |
|
Kinetic tremor, Aggressive behavior, Self-mutilation, Inability to walk, Waddling gait |
OMIM:616269 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... |
OMIM:617225 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... |
OMIM:300423 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Elevated circulating creatine kinase concentration, Steppage gait, Tremor, Ataxia, Gai... |
OMIM:618387 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Loss of ability to walk, Rigidity |
OMIM:615010 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Hyper... |
OMIM:233910 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Babinski sign, Optic atrophy, Steppage gait, Tremor, Hypertonia, Spasticity, Flexion contracture,... |
OMIM:609260 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia |
OMIM:213200 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Dementia, Optic atrophy, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinson... |
ORPHA:329284 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... |
ORPHA:2070 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Urocanase Deficiency |
|
Tremor, Ataxia, Aggressive behavior |
OMIM:276880 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairment, Myoclonus, ... |
ORPHA:363400 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Unsteady gait, Eosinophilia |
OMIM:618092 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Aggressive behavior, Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Cerebral palsy, Elevated circulating c... |
ORPHA:682 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Trem... |
OMIM:615157 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... |
ORPHA:98773 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... |
ORPHA:79263 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Anxiety, Oculogyric crisis, Lethargy, Gait disturbance, Poor coordina... |
ORPHA:255 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
Gerstmann-Straussler Disease |
|
Dementia, Rigidity, Weight loss, Myoclonus, Aggressive behavior, Bradykinesia, Tremor, Emotional ... |
OMIM:137440 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Type I diabet... |
OMIM:304790 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
Caribbean Parkinsonism |
|
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Frontal ... |
ORPHA:97355 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia |
ORPHA:36913 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Tremor, Oculomotor apraxia, Ataxia, Hy... |
OMIM:208920 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Neuroectodermal Melanolysosomal Disease |
|
Abnormality of the optic nerve, Optic atrophy, Rigidity, Aplasia/Hypoplasia of the macula, Macula... |
ORPHA:33445 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... |
OMIM:607671 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Ankle flexion contracture, Cognitive impairment |
OMIM:616668 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Dementia, Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty wa... |
OMIM:159950 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Aceruloplasminemia |
|
Torticollis, Apathy, Increased circulating ferritin concentration, Abnormality of retinal pigment... |
ORPHA:48818 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Ataxia, Hypertonia, Inability to walk, Spasticity |
OMIM:608885 |
Kufor-Rakeb Syndrome |
|
Babinski sign, Dementia, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, ... |
OMIM:606693 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia |
OMIM:619028 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... |
OMIM:619405 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus |
ORPHA:275555 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hypocalcemia, Difficulty walking, Fatigable weakne... |
ORPHA:99845 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Unconjugated hyperbilirubinemia, Rigidity, Steppage gait, Abnormality of extrapyramidal... |
OMIM:613280 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
Late-Onset Isolated Acth Deficiency |
|
Hypercalcemia, Macrocytic anemia, Hyponatremia, Normocytic anemia, Hypoglycemia, Hyperuricemia, T... |
ORPHA:199299 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Ataxia, Tremor |
OMIM:618951 |
Spinocerebellar Ataxia 42 |
|
Babinski sign, Spastic gait, Cognitive impairment, Spastic ataxia, Tremor, Ataxia, Unsteady gait,... |
OMIM:616795 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Babinski sign, Dementia, Loss of ambulation, Spastic gait, Spastic dysarthria, P... |
ORPHA:447757 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... |
OMIM:277410 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
Dentatorubral Pallidoluysian Atrophy |
|
Involuntary movements, Dementia, Optic neuropathy, Dyssynergia, Choreoathetosis, Dysmetria, Cogni... |
ORPHA:101 |
Atypical Rett Syndrome |
|
Involuntary movements, Panic attack, Gait disturbance, Dystonia, Limb myoclonus, Tongue thrusting... |
ORPHA:3095 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101075 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dystonia, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric ... |
OMIM:618049 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia |
ORPHA:94089 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Dystonia, Optic atrophy, Progressive extrapyramidal movement disorder, Cho... |
ORPHA:401768 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Hypera... |
ORPHA:228360 |
Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Aggressive behavior, Cognitive impairment, Abnormality of extrapyramid... |
OMIM:607454 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... |
ORPHA:284324 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... |
ORPHA:398063 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Neuronal Intranuclear Inclusion Disease |
|
Gait disturbance, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia |
OMIM:603472 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Unconjugated hyperbilirubinemia, Memory impairment, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Parkinsonism, Babinski sign, Dystonia, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesi... |
OMIM:300055 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Gait disturbance, Dystonia, Cognitive impairment, Shuffling gait, Tremor, Abnormality of coordina... |
ORPHA:352649 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Dystonia, Abnormality of retinal pigmentation, Dysmetria, Tremor, Ataxia, Hyper... |
ORPHA:96 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Peroxisome Biogenesis Disorder 5B |
|
Dysmetria, Retinal dystrophy, Rod-cone dystrophy, Tremor, Oculomotor apraxia, Ataxia, Elevated le... |
OMIM:614867 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia |
OMIM:147060 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Perry Syndrome |
|
Dystonia, Rigidity, Suicidal ideation, Weight loss, Apathy, Bradykinesia, Tremor, Short stepped s... |
OMIM:168605 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Failure to thrive, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety |
OMIM:606703 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Social and occupatio... |
ORPHA:240071 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... |
OMIM:617435 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Cognitive impairm... |
ORPHA:70594 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Classic Phenylketonuria |
|
Paraplegia, Self-injurious behavior, Hyperphenylalaninemia, Tremor, Hypertonia, Hemiplegia, Menta... |
ORPHA:79254 |
Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking |
ORPHA:324588 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Dementia, Akinetic mutism, Chorea, Spastic hemiparesis, Myoclonus, Spa... |
ORPHA:282166 |
Neuroferritinopathy |
|
Involuntary movements, Babinski sign, Decreased circulating ferritin concentration, Dystonia, Arm... |
ORPHA:157846 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Tremor, Inability to walk, Spastic paraparesis, Difficulty walking |
ORPHA:101077 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyponatremia, Hyperkalemia |
OMIM:143860 |
Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Waddling gait |
OMIM:617557 |
Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Writer's cramp, Torticollis, Head tremor, Myoclonus, Limb tremor, Focal dystonia,... |
ORPHA:420492 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Progressive psychomotor deterioration, Poor motor coordination, Dysmetria, Cognitive impairment, ... |
ORPHA:1170 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Periodic paralysis, Abnormal dental enamel morphology |
ORPHA:757 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Omenn Syndrome |
|
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia |
ORPHA:39041 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... |
ORPHA:420485 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dementia, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resti... |
OMIM:300623 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spasticity, Tremor, ... |
ORPHA:206443 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Babinski sign, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Frequent falls, Hand tremor, ... |
ORPHA:289560 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Optic atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Periodic hyperkalemic paralysis |
OMIM:170500 |
Parkinson Disease 20, Early-Onset |
|
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Mental deterioration, P... |
OMIM:615530 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Optic atrophy, Loss of ambulation, Spastic ata... |
ORPHA:137898 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Athetosis, Dystonia, Dystonic gait, Cognitive impairment, Abnormality of extrapyramidal motor fun... |
ORPHA:280219 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Optic atrophy, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Ina... |
ORPHA:93952 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity |
OMIM:618718 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:616719 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
Serotonin Syndrome |
|
Tremor, Mydriasis |
ORPHA:43116 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Babinski sign, Dementia, Gait disturbance, Dystonia, Optic atrophy, Elevated circulating creatine... |
OMIM:614298 |
Pelizaeus-Merzbacher Disease |
|
Dystonia, Optic atrophy, Head titubation, Choreoathetosis, Failure to thrive, Cognitive impairmen... |
OMIM:312080 |
Autosomal Dominant Cerebellar Ataxia |
|
Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculations, Abnormal pyramidal sig... |
ORPHA:99 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Mohr-Tranebjaerg Syndrome |
|
Babinski sign, Dementia, Dystonia, Optic atrophy, Oromandibular dystonia, Shuffling gait, Focal d... |
ORPHA:52368 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Autoimmune hemolytic an... |
OMIM:617388 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Perry Syndrome |
|
Dementia, Weight loss, Abnormality of extrapyramidal motor function, Apathy, Tremor, Parkinsonism |
ORPHA:178509 |
Hsd10 Disease |
|
Gait disturbance, Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic pa... |
ORPHA:391417 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Babinski sign, Optic atrophy, Dysmetria, Vestibular areflexia, Intention tremor, Progressive cere... |
ORPHA:504476 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Waisman Syndrome |
|
Dementia, Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:311510 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Achilles tendon contract... |
OMIM:302800 |
Arachnoid Cyst |
|
Mydriasis, Gait disturbance, Inability to walk |
ORPHA:2356 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Roifman Syndrome |
|
Hepatosplenomegaly, Eosinophilia |
ORPHA:353298 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... |
OMIM:618877 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations |
ORPHA:90117 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Gait ataxia |
OMIM:617810 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia, Periodic hyperkalemic paralysis |
OMIM:145260 |
Dystonia 7, Torsion |
|
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... |
OMIM:602124 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Dementia, Cognitive impairment, Myoclonus, Tremor, Ataxia, Blepharospasm |
OMIM:607876 |
Xeroderma Pigmentosum, Complementation Group F |
|
Dementia, Tremor, Ataxia, Flexion contracture, Decreased body weight |
OMIM:278760 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Tremor, Hypo... |
ORPHA:1578 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Trisomy X |
|
Tremor, Anxiety, Cognitive impairment, Attention deficit hyperactivity disorder |
ORPHA:3375 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign |
ORPHA:139485 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... |
ORPHA:848 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Babinski sign, Dementia, Rigidity, Shuffling gait, Intention tremor, Macular degeneration, Ataxia... |
ORPHA:247234 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Optic atrophy, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking |
ORPHA:330050 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... |
OMIM:614831 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Optic atrophy, Limb hypertonia, Retinal degeneration, Rigidity, Failure to... |
ORPHA:442835 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia |
ORPHA:169160 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Dementia, Rigidity, Tremor, Abnormal pyramidal sign |
OMIM:260540 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... |
OMIM:235400 |
Alternating Hemiplegia Of Childhood |
|
Tremor, Mydriasis, Dystonia, Ataxia |
ORPHA:2131 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... |
OMIM:619632 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... |
OMIM:607483 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Dementia, Rigidity, Abnormal pyramidal sign, Resting tremor, Spasticity, Akinesia, Mental deterio... |
OMIM:616840 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Rigidity, Cognitive impairment, Falls, Bradykinesia, Tremor, Unsteady gait, B... |
ORPHA:683 |
Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... |
ORPHA:276198 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Fatigable weakness, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Dementia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Rod-cone... |
OMIM:183090 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Spinocerebellar Ataxia 27 |
|
Postural tremor, Ataxia, Truncal ataxia, Head tremor, Limb ataxia, Gait ataxia, Memory impairment |
OMIM:609307 |
4H Leukodystrophy |
|
Dystonia, Optic atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gai... |
ORPHA:289494 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... |
OMIM:274150 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Manganese Poisoning |
|
Postural tremor, Gait disturbance, Dystonia, Aggressive behavior, Abnormality of extrapyramidal m... |
ORPHA:306682 |
Parkinson Disease 1, Autosomal Dominant |
|
Gait disturbance, Dementia, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting ... |
OMIM:168601 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Parkinson Disease 8, Autosomal Dominant |
|
Dementia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication... |
OMIM:607060 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia |
OMIM:618999 |
Spinocerebellar Ataxia Type 10 |
|
Babinski sign, Kinetic tremor, Gait imbalance, Dysmetria, Aggressive behavior, Apathy, Lower limb... |
ORPHA:98761 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Anxiety, Apathy, Bradyki... |
ORPHA:227510 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
Primary Progressive Freezing Gait |
|
Postural tremor, Babinski sign, Clonus, Dementia, Gait imbalance, Rigidity, Frequent falls, Shuff... |
ORPHA:75567 |
Sneddon Syndrome |
|
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment |
ORPHA:820 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia |
ORPHA:90060 |
Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Dystonia 24 |
|
Torticollis, Head tremor, Blepharospasm, Oromandibular dystonia |
OMIM:615034 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyponatremia, Hyperkalemia |
OMIM:614736 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Gait disturbance, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... |
OMIM:616586 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Babinski sign, Dystonia, Gait imbalance, Choreoathetosis, Elevated circulating c... |
ORPHA:64753 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Tremor, Ataxia, Emotional lability, Irritability, Lethargy |
OMIM:201100 |
Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Apathy, Bradykinesia, Pr... |
ORPHA:98933 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Epilepsy, Familial Adult Myoclonic, 5 |
|