| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... |
OMIM:160120 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersp... |
OMIM:610539 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Sinus tachycard... |
OMIM:232300 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking |
OMIM:615048 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
| Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... |
OMIM:619565 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myoclo... |
ORPHA:36913 |
| Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Chorea, Tremor, Proteinuria, Hyperuricemia, Oculogyric crisis, ... |
ORPHA:94093 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Abnormality of the liver, Neutropenia, Lowe... |
ORPHA:2169 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
| Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Respiratory paralysis, Transient hypophosphatemia, Palpitat... |
ORPHA:79102 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Ataxia, Retinal degeneration, Limb ataxia, Macular ... |
ORPHA:48818 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myoclonic spasms, Enamel hypoplasia, Hypoc... |
ORPHA:94089 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Histiocytoid Cardiomyopathy |
|
Hemiplegia, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Hepa... |
ORPHA:137675 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Anxiety, Spasticity, Unsteady gait |
OMIM:618092 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Prolo... |
ORPHA:94090 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methy... |
OMIM:277410 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, EEG abnormality, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptogl... |
OMIM:612126 |
| Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
| Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait |
OMIM:182920 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... |
OMIM:618986 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia |
OMIM:617830 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, A... |
OMIM:616657 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit... |
OMIM:615924 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Inability to walk, Atrial septal de... |
OMIM:620066 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
| Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
| Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Papilledema, Anemia, Eosinop... |
OMIM:607115 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations, Tremo... |
ORPHA:90117 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Persistence of hemogl... |
OMIM:612561 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Inability to walk, Transient ischemic attack, Hepatomegaly, Flexion contractur... |
ORPHA:365 |
| Malaria |
|
Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retino... |
ORPHA:673 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hepatomegaly, Oligosacchariduria, Left ventricular outflow tract obstruction, ... |
ORPHA:308552 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Impulsivity, Irritability, Depression, Focal dystonia, Abnorm... |
ORPHA:216873 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Clumsiness, Flexion contracture, Eosinophilia, Elevated circulating creatine kinase concentration... |
OMIM:253600 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Cortical myoclonus, Hypocalcemia, Depression, Anxiety, Fatigable weakness, Arrhyt... |
ORPHA:428 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... |
ORPHA:276435 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... |
OMIM:618387 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Scarring, Increased blood urea nitrogen, Hepatomegal... |
ORPHA:90321 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia, Dyst... |
OMIM:619150 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:614018 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentr... |
OMIM:615558 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Difficulty walking, Hype... |
ORPHA:99845 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the t... |
OMIM:603554 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Increased blood urea nitrogen, Abnormal renal physiology, Schistocytos... |
OMIM:274150 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... |
OMIM:213600 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Jaundice, Failu... |
ORPHA:231226 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Pgm3-Cdg |
|
Ataxia, Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Bone marrow hypocell... |
ORPHA:443811 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Huntington Disease-Like 1 |
|
EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Depression, S... |
ORPHA:157941 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... |
ORPHA:340 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Hyperammonemia, Chorea, Optic atrophy, Choreoathetosis, Neutropenia, Anem... |
ORPHA:289916 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Failure to thrive, Hepatocellular necrosis, Hepatomegaly, Tetr... |
OMIM:618278 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Hyperammonemia, Leukopenia, Tetraparesis, Macrocytic anemia, Optic atrophy, ... |
ORPHA:27 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia |
OMIM:254900 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Nephrocalcinosis, Hypocalcemic seiz... |
OMIM:146200 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Dysmetria, Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine kinase... |
ORPHA:96180 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertonia, Failure to thrive, Hepatomegaly, Aminoaciduria, Flexion contracture, Anisocytosis, Ca... |
OMIM:604273 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Abnormal macular m... |
OMIM:607616 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Ventricul... |
OMIM:614947 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Immunodeficiency 7 |
|
Failure to thrive, Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
| Immunodeficiency 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Cortical myoclonus, Lymp... |
OMIM:615816 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Gait ataxia, Cochl... |
ORPHA:95433 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... |
ORPHA:3077 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, EEG abnormality, Involuntary movements, Spasticity, Dystonia |
OMIM:617820 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Pseudohypoparathyroidism Type 1A |
|
Sensorineural hearing impairment, Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myocloni... |
ORPHA:79443 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Hepatomegaly, Enlarged kidney, Optic atrophy, Thrombocytopenia, Proteinuria, B... |
OMIM:617303 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia |
OMIM:615010 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Cardiomyopathy, Cardi... |
OMIM:261740 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... |
OMIM:619911 |
| Roifman Syndrome |
|
Hip contracture, Hepatomegaly, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompacti... |
OMIM:616651 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rigidity, Elevated circulating creatine kinase concentration, Hypotension, Myoglobin... |
OMIM:145600 |
| Cherubism |
|
Optic neuropathy, Macular scar, Marcus Gunn pupil |
OMIM:118400 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... |
OMIM:125250 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Myoclonus, Membr... |
ORPHA:251004 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic... |
OMIM:612562 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Hydroxyprolinuria, Ataxia, EEG abnormality, Hyperactivity, Hyperglycinuria, Pro... |
OMIM:239500 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... |
ORPHA:401901 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia |
OMIM:261630 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... |
OMIM:270500 |
| Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... |
ORPHA:97214 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
| Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, EEG abnormality, Dystonia, Chorea |
OMIM:618760 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, El... |
OMIM:619470 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... |
OMIM:611590 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hemiplegia/hemiparesis, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Eos... |
ORPHA:183 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Loss of ambulation, Blepharospasm, Freezing of gait, Spastic dysarthria... |
ORPHA:240094 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, ... |
OMIM:159550 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
| Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... |
ORPHA:811 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Atrial septal defect, Inguinal hernia, Elevated circulating propionylcarnitine... |
OMIM:614857 |
| Roifman Syndrome |
|
Hip contracture, Eosinophilia, Hepatosplenomegaly, Noncompaction cardiomyopathy, Lymphadenopathy |
ORPHA:353298 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
| Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopen... |
ORPHA:79312 |
| Omenn Syndrome |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Ab... |
ORPHA:39041 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated c... |
ORPHA:466650 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... |
OMIM:619405 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Laryngeal dystonia, Depression, Anxiety, Myoclonic spasms, Enamel hypoplasia, Hypoc... |
ORPHA:79444 |
| Saccharopinuria |
|
Hyperlysinemia, Hyperammonemia, Spastic diplegia, Tremor, Abnormality of circulating enzyme level... |
ORPHA:3124 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Eosinophilia |
OMIM:248100 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Ataxia, Tremor, Low-set ears, Cardiac arrest |
OMIM:618951 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Blackfan-Diamond Anemia |
|
Ventricular septal defect, Horseshoe kidney, Reticulocytopenia, Abnormal heart morphology, Increa... |
ORPHA:124 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Abnormal mitral valve morphology, Nephrotic syndrom... |
ORPHA:1192 |
| Immunodeficiency 49 |
|
Lymphopenia, Eosinophilia, Spastic tetraplegia, Umbilical hernia, Posteriorly rotated ears |
OMIM:617237 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Flexion contracture, Difficulty walking, Spasticity, Irritab... |
OMIM:617393 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Retinal degeneration, Macular deg... |
ORPHA:99 |
| Alveolar Echinococcosis |
|
Cutaneous abscess, Abnormality of bladder morphology, Ataxia, Budd-Chiari syndrome, Abnormal peri... |
ORPHA:284 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... |
OMIM:612925 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Hepatosplenomegaly, Thrombocytopenia, Spasticity |
OMIM:610329 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Polycythemia, Abnormality of ext... |
OMIM:613280 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... |
OMIM:208920 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... |
OMIM:224120 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Rod-cone dystrophy, Intention tremor, Hemiparesis, Pigmentary retinopathy, Tremor, Elevat... |
OMIM:614307 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... |
OMIM:618218 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Chronic neutropenia, Spastic tetraplegia, Anemia, Thrombocytopenia, Dystonia |
OMIM:619302 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Palpitations, Abnormal mean corpuscular volume, Re... |
ORPHA:86839 |
| Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hematochezia, ... |
ORPHA:2070 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Optic atrophy |
OMIM:210000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... |
OMIM:612922 |
| Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Tremor, Difficulty walking, Emotional lability, Dystonia, Slurred... |
ORPHA:255 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptifo... |
ORPHA:88616 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra... |
ORPHA:210128 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Cellulitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... |
ORPHA:486 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Rod-cone dystrophy, Pigmentary retinopathy, Freque... |
ORPHA:216866 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyr... |
OMIM:615362 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenome... |
ORPHA:331206 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, High-output c... |
ORPHA:231222 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Scleroderma |
|
Brachial plexus neuropathy, Myocarditis, Transient ischemic attack, Pericarditis, Flexion contrac... |
ORPHA:801 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Hemiparesis, Schistocytosis, Anuria, Elevated circ... |
OMIM:235400 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hemolytic-uremic syndrome, Hematuria, Elevated circulating creatin... |
OMIM:612926 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... |
OMIM:609425 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia, Irritability |
OMIM:239350 |
| Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... |
OMIM:617013 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyperphenylala... |
OMIM:261640 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Spa... |
OMIM:300983 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Mitral regurgitation, ... |
ORPHA:261250 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Abnormality of extrapyramidal motor function, Cho... |
ORPHA:382 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Inguinal hernia, Self-mutilation, Truncal ataxia, Unstea... |
OMIM:614063 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Nephrotic syndrome, Lymphocytosis, Abnormality of the lymph nodes, Eosinophili... |
ORPHA:911 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Gait disturbance, Mildly elevated creatine kinase, Fasciculations, T... |
OMIM:604484 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Hemiplegia, Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of C... |
OMIM:243700 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Failure to thrive secondary to recurren... |
ORPHA:169160 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... |
ORPHA:71275 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomi... |
ORPHA:85451 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Anxiety, Tremor, Dystonia, Cardiomyopathy |
OMIM:619651 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... |
OMIM:612736 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Clumsiness, Hyperlysinemia, Hypervalinemia, Leukocyto... |
OMIM:615673 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Dysmetria, Rod-cone dystrophy, Retinal dystrophy, Tremor, Elevated levels of phytanic aci... |
OMIM:614867 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Abnormality of ex... |
OMIM:607454 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... |
ORPHA:444463 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Spl... |
OMIM:613179 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Heparan sulfate excretion in urine, Enlarged kidney, Optic atrophy, Thrombocyt... |
ORPHA:505248 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Sensorineural hearing impairment, Hypertonia, Tremor, 3-Methylglutaconic aciduria, Neutropenia, D... |
OMIM:617248 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
| Atypical Rett Syndrome |
|
Loss of ambulation, EEG abnormality, Inability to walk, Inappropriate crying, Hand apraxia, Pill-... |
ORPHA:3095 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... |
ORPHA:248111 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Urinary re... |
ORPHA:99027 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Optic atrophy, Tremor, Spasticity, Aplasia/Hypoplasia of the macula... |
ORPHA:33445 |
| Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neu... |
OMIM:619644 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... |
OMIM:304790 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Self-injurious behavior, Inability to walk, Hyperactivity, Tre... |
OMIM:618718 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Hyperactivity... |
ORPHA:363400 |
