Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Nephrotic Syndrome, Type 23 |
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Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Nephrotic Syndrome, Type 24 |
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Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Nephrotic Syndrome, Type 18 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Focal Segmental Glomerulosclerosis 8 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Nephrotic Syndrome, Type 19 |
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Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Coenzyme Q10 Deficiency, Primary, 6 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
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Abnormal erythrocyte morphology |
OMIM:250700 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Focal Segmental Glomerulosclerosis 7 |
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Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Nephrotic Syndrome, Type 17 |
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Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 10 |
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Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Nephrotic Syndrome, Type 21 |
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Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Nephrotic Syndrome, Type 12 |
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Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Nephrotic Syndrome, Type 4 |
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Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Nephrotic Syndrome, Type 3 |
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Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Focal Segmental Glomerulosclerosis 2 |
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Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 9 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Nephrotic Syndrome, Type 26 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Nephrotic Syndrome, Type 13 |
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Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Hyperaldosteronism, Familial, Type Iv |
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Hypertension |
OMIM:617027 |
Lipoprotein Glomerulopathy |
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Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Diamond-Blackfan Anemia-Like |
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Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
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Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
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Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Focal Segmental Glomerulosclerosis 6 |
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Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Nephrotic Syndrome, Type 9 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:615573 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Nephrotic Syndrome, Type 8 |
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Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... |
OMIM:615244 |
Diamond-Blackfan Anemia 19 |
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Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Fetal Cytomegalovirus Syndrome |
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Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
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Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis |
OMIM:249660 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Paroxysmal Exertion-Induced Dyskinesia |
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Ataxia, Irritability, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Genera... |
ORPHA:98811 |
Dentatorubral-Pallidoluysian Atrophy |
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Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dystonia, Dementia |
OMIM:125370 |
Nephrotic Syndrome, Type 2 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure |
OMIM:616921 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Cognitive impairment, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Memory impairme... |
ORPHA:401901 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Behavioral Variant Of Frontotemporal Dementia |
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Apathy, Mental deterioration, Inappropriate behavior, Memory impairment, Astrocytosis, Gait distu... |
ORPHA:275864 |
Progressive Non-Fluent Aphasia |
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Temporal cortical atrophy, Senile plaques, Mental deterioration, Depression, Anxiety, Memory impa... |
ORPHA:100070 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Apathy, Cerebral cortical atrophy, Neuronal loss in central nervous system, Inappropriate behavio... |
OMIM:600795 |
Nephrotic Syndrome, Type 6 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
Epilepsy With Bilateral Occipital Calcifications |
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Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
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Meckel diverticulum |
OMIM:155140 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... |
OMIM:614561 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Motor stereotypy, Ataxia, Focal motor status epilepticus, Poor coordination, Chorea, Falls, Aggre... |
OMIM:619150 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Thrombocythemia 3 |
|
Thrombocytosis, Ischemic stroke |
OMIM:614521 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... |
OMIM:619155 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyuria, Ketoacidosis, Polyphagia, Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Focal Segmental Glomerulosclerosis 1 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
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Inability to walk, Self-injurious behavior, Convulsive status epilepticus, Stereotypical hand wri... |
OMIM:618760 |
Glomerulopathy With Fibronectin Deposits 2 |
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Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... |
OMIM:601894 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Mental deterioration, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Ri... |
OMIM:213600 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... |
ORPHA:656 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Atonic seizure, Self-injurious behavior, Focal impaired awareness seizure, Generalized my... |
ORPHA:382 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Oromandibular dystonia, Clumsiness, Irritability, Cognitive impairment, Emotional lability, Abnor... |
ORPHA:216873 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... |
OMIM:618587 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Nephrotic Syndrome, Type 7 |
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Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
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Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Iga Nephropathy, Susceptibility To, 3 |
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Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Hemoglobin H Disease |
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Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Galloway-Mowat Syndrome 8 |
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Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Infantile Convulsions And Choreoathetosis |
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Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Athetosis, Complex febrile... |
ORPHA:31709 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Huntington Disease-Like 2 |
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Parkinsonism, Chorea, Memory impairment, Gait disturbance, Involuntary movements, Weight loss, Dy... |
ORPHA:98934 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Athetosis, Writer's cramp, Involuntary movements, Seizure, Dystonia, Focal sensory seizure |
ORPHA:98809 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223100 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... |
OMIM:617282 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Seizure, Dementia |
OMIM:118750 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Mental deterioration, Cachexia, Babinski sign, Parkinsonism, Anxiety, Chorea, ... |
OMIM:618093 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron ... |
ORPHA:412066 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, ... |
OMIM:616981 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walkin... |
OMIM:500003 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Clonic seizure, Self-injurious behavior, Tonic seizure, Ster... |
OMIM:618917 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Ketoacidosis, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, Dementia |
OMIM:615483 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy, Cognitive impairment,... |
ORPHA:204 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... |
ORPHA:248111 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Cho... |
OMIM:618317 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... |
OMIM:256300 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... |
ORPHA:444463 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Mental deterioration, Myoclonus, Tremor, Seizure |
OMIM:616187 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Self-injurious behavior, Myoclonus, Oculogyric crisis, Hyperkinetic movements,... |
OMIM:614254 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... |
ORPHA:567548 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Cognitive impairment, Parkinsonism, Memory impairment, Involuntary movements, Choreoathetosis, Se... |
OMIM:616413 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Status epilepticus, Ataxia, Episodic quadriplegia, Mental deterioration, Choreoatheto... |
OMIM:614820 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... |
OMIM:619317 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Emotional lability, Mental deterioration, Myoclonus, Babinski sign, Tremor, Seizure, Abno... |
OMIM:615362 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... |
ORPHA:71277 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Depression, Neurodegeneration, Cerebellar atrophy, Dementia |
OMIM:615889 |
Huntington Disease-Like 1 |
|
Dysmetria, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination, Dementia |
OMIM:603218 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... |
ORPHA:85292 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... |
OMIM:616139 |
Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... |
OMIM:130950 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... |
ORPHA:79263 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Huntington Disease |
|
Bradykinesia, Rigidity, Chorea, Gait ataxia, Seizure, Dementia |
OMIM:143100 |
Inherited Creutzfeldt-Jakob Disease |
|
Senile plaques, Apathy, Neuronal loss in central nervous system, Progressive cerebellar ataxia, B... |
ORPHA:282166 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Anxiety, Rigidity, Chorea, Weight loss, Dystonia, Irritabili... |
OMIM:606438 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Enlarged tonsils, Leukocytosis |
ORPHA:168621 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Progressive neurologic deteriora... |
OMIM:616230 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Mental deterioration, Babinski sign, Chorea, Difficulty walkin... |
ORPHA:399 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Memory impairment, Tremor, Difficulty walk... |
OMIM:614018 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Diabetic ketoacidosis, Maturity-on... |
ORPHA:99886 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasti... |
OMIM:617493 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Mental deterioration, Episodic hemiplegia, Choreoathetosis, Bilateral toni... |
OMIM:104290 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Abno... |
OMIM:162350 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... |
OMIM:619725 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor, Seizure |
OMIM:141500 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Ataxia, Cognitive impairment, Azoospermia |
OMIM:613909 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Gait disturbance, Dementia, Chorea, Emotional lability |
OMIM:607674 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:618348 |
Dystonia With Ringbinden |
|
Gait disturbance, Dystonia, Chorea |
OMIM:224550 |
Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Cognitive impairment, Male infertility, Azoosp... |
ORPHA:276183 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary ... |
ORPHA:60026 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... |
OMIM:619164 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia, Polyuria, Alkalosis, Hydronephrosis, Central diabetes insipidus |
OMIM:304900 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Decreased body weight, Mental deterioration, Abnormality of extrapyramidal motor function... |
OMIM:617672 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hepatomegaly, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tre... |
OMIM:615924 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Cognitive impairment, Babinski sign, Chorea, Spasticity, Abnormality of extrapyramidal mo... |
OMIM:258501 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Somatic sensory dysfunction, Pr... |
OMIM:158600 |
Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Clonus, Spastic tetraplegia, Seizure, Irritability |
OMIM:613811 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... |
OMIM:617831 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Cognitive impairme... |
ORPHA:157946 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Esophagiti... |
OMIM:619079 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Acute kid... |
ORPHA:567544 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Chorea, Involuntary movements, Seizure, Dystonia |
OMIM:617804 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Tremor, Sp... |
OMIM:164500 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus, Dementia |
ORPHA:308 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Mental deterioration, Parkinsonism, Chorea |
OMIM:616922 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:617709 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Developmental And Epileptic Encephalopathy 17 |
|
Generalized tonic seizure, Dystonia, Chorea, Athetosis |
OMIM:615473 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Inabi... |
ORPHA:2590 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Chorea, Kinetic tremor, Gait ataxia,... |
ORPHA:98756 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure, Dementia |
OMIM:208700 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:608709 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Mental deterioration, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Sta... |
OMIM:204300 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... |
ORPHA:86841 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Truncal ataxia, Chorea, Elevated hepatic transaminase, Difficulty walking, Bilatera... |
ORPHA:369840 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Cognitive impairment |
OMIM:607341 |
Huntington Disease-Like 3 |
|
Ataxia, Mental deterioration, Abnormal pyramidal sign, Chorea, Spasticity, Unsteady gait, Seizure... |
OMIM:604802 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... |
ORPHA:36387 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... |
OMIM:607208 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... |
ORPHA:54370 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure |
OMIM:619561 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... |
ORPHA:84090 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Mental deterioration, Neurodegeneration, Cerebellar atrophy |
OMIM:610951 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Hypertonia, Ataxia, Status epilepticus, Clonic seizure, Atonic seizure, General... |
ORPHA:79097 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... |
OMIM:606703 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Renal Glucosuria |
|
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna |
OMIM:233100 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... |
ORPHA:13 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Recu... |
OMIM:613101 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea |
ORPHA:494541 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... |
OMIM:615768 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... |
OMIM:618090 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, So... |
ORPHA:98763 |
Sydenham Chorea |
|
Chorea, Hemiballismus, Unsteady gait, Emotional lability, Irritability |
ORPHA:306731 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence... |
ORPHA:79137 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cognitive impairment, Simultan... |
ORPHA:157941 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... |
ORPHA:98762 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Mental deterioration, Depression,... |
OMIM:221820 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Metabolic acidosis, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulat... |
OMIM:613677 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Status epilepticus, Ataxia, Hepatomegaly, Progressive psychomotor deterioration, Cognitive impair... |
ORPHA:363400 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Focal tonic seizure, Progressive cerebellar ataxia, Focal impaired awareness seizure, Self-injuri... |
ORPHA:485350 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Paroxysmal lethargy, Choreoathetosis, Seizure, Spa... |
OMIM:606777 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Myoclonus, Anxiety, Difficulty walking, Bilateral tonic-... |
OMIM:619191 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gliosis, Cerebral atrophy, Mental deterioration, Depression, Gait ataxia, Cerebellar atrophy |
OMIM:618369 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy |
OMIM:608971 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Aggressive behavior, Spasticity, Seizure |
ORPHA:356996 |
Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Rigidity, Memory impairment, Spastic gait, Postural tremor |
ORPHA:401849 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Episodic Kinesigenic Dyskinesia 1 |
|
Seizure, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Malaria |
|
Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Anemia... |
ORPHA:673 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Sei... |
OMIM:614947 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Seizure, Dy... |
OMIM:261630 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Abnormality of extrapyramidal motor function, Limb hypertonia, Abnormal pyrami... |
ORPHA:500180 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Abnormal intestine morphology |
OMIM:251850 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia |
OMIM:131400 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Status epilepticus, Focal impaired awareness seizure, Chorea, Hypothyroidism, Bilateral tonic-clo... |
OMIM:613970 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, B... |
OMIM:607616 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... |
ORPHA:725 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dysto... |
OMIM:618924 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Truncal atax... |
OMIM:208920 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... |
OMIM:617665 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Anxiety, Generalized-onset seizure, Focal-onset seizure, Paroxysmal dystonia, Paroxysmal choreoat... |
OMIM:602066 |
Sneddon Syndrome |
|
Mental deterioration, Hemiparesis, Chorea, Memory impairment, Tremor, Seizure, Dementia |
ORPHA:820 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Tip-toe gait, Mental deterioration, Depression, Neurodegeneration, Gait disturbance |
OMIM:615643 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Par... |
ORPHA:53583 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Neurodegeneration With Brain Iron Accumulation |
|
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Dystonia |
ORPHA:385 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... |
ORPHA:98755 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Self-injurious behavior, Anxiety, Chorea, Athetosis, Spastic tetraplegia, Seizure, Dystonia |
OMIM:619922 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Frasier Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... |
OMIM:603552 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Failure to thrive, Seizure, Chorea, Athetosis |
OMIM:309541 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... |
OMIM:300423 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence of CD8-positive T cells,... |
OMIM:269840 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... |
ORPHA:103907 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia |
OMIM:611092 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Failure to thrive, Ataxia, Inability to walk, Progressive neurologic de... |
ORPHA:70472 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Jaundice, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Abnormality of endocrin... |
ORPHA:93111 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Cognitive impairment, Depression, Axonal degen... |
OMIM:615157 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy |
OMIM:617056 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, ... |
ORPHA:98759 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... |
OMIM:150550 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Progressive ... |
OMIM:261640 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Hypergonadotropic hypogonadism, Intention tremor, Myoclonus, Dysdiadochokinesi... |
ORPHA:251347 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Ataxia, Loss of ambulation, Atrophy/Degeneration involving the caudate nucleus... |
ORPHA:225154 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Seizure |
OMIM:617862 |
Developmental And Epileptic Encephalopathy 78 |
|
Status epilepticus, Inability to walk, Cerebral palsy, Chorea, Spasticity, Seizure |
OMIM:618557 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Cognitive impairment, Proximal m... |
OMIM:619733 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Irri... |
OMIM:607483 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... |
ORPHA:100988 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Epileptic spasm, Chorea, Generalized-onset seizure, Spasticity, Seizure, Focal-... |
ORPHA:88616 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... |
OMIM:618534 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... |
OMIM:194080 |
Nephronophthisis 3 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepat... |
OMIM:604387 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Status epilepticus, Failure to thrive, Hypertonia, Inability to walk, Chorea, Spastic tetraplegia... |
OMIM:617864 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... |
ORPHA:178469 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... |
OMIM:618986 |
Myoclonus, Intractable, Neonatal |
|
Myoclonus, Seizure, Chorea, Athetosis |
OMIM:617235 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... |
OMIM:159550 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... |
OMIM:300718 |
Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Focal myoclonic seizure, Emotional lability, Slurred speech, At... |
ORPHA:98818 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Aggr... |
OMIM:616409 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Impaired distal tactile sensa... |
OMIM:618400 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Emotional lability, Anxiety, Parkinsonism, Craniofacia... |
ORPHA:71517 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Mental deterioration, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (a... |
OMIM:254800 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Fasciculations, Decreased fertility |
OMIM:313200 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Lower limb spasticity, Inability to walk, Aggressive behavior |
OMIM:619639 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... |
OMIM:617836 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... |
OMIM:619468 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... |
ORPHA:314632 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Aminoac... |
ORPHA:213 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... |
OMIM:607346 |
Pick Disease Of Brain |
|
Apathy, Frontotemporal dementia, Gliosis, Neuronal loss in central nervous system, Emotional blun... |
OMIM:172700 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus, Degeneration of anterior horn cells, Fasciculations, Fr... |
OMIM:159950 |
Metachromatic Leukodystrophy |
|
Ataxia, Gallbladder dysfunction, Mental deterioration, Emotional lability, Babinski sign, Chorea,... |
OMIM:250100 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... |
OMIM:612736 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss, Diabetes insipidus |
ORPHA:30925 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Cognitive imp... |
OMIM:617284 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... |
OMIM:619738 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Erythrocytos |