Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Nephrotic Syndrome, Type 23 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
Nephrotic Syndrome, Type 24 |
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Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... |
OMIM:619263 |
Nephrotic Syndrome, Type 18 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Focal Segmental Glomerulosclerosis 7 |
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Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
Nephrotic Syndrome, Type 17 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 10 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Nephrotic Syndrome, Type 21 |
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Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
Coenzyme Q10 Deficiency, Primary, 6 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Focal Segmental Glomerulosclerosis 2 |
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Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 9 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Nephrotic Syndrome, Type 9 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
Nephrotic Syndrome, Type 26 |
|
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 3, Susceptibility To |
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Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
Lipoprotein Glomerulopathy |
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Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy |
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Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... |
ORPHA:401901 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Paroxysmal Exertion-Induced Dyskinesia |
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Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Irr... |
ORPHA:98811 |
Dentatorubral-Pallidoluysian Atrophy |
|
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dementia, Dystonia, Choreoathetosis |
OMIM:125370 |
Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency |
OMIM:249660 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:600995 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Progressive Non-Fluent Aphasia |
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Mental deterioration, Temporal cortical atrophy, Memory impairment, Depression, Frontotemporal ce... |
ORPHA:100070 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Mental deterioration, Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal moto... |
OMIM:614561 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Chorea, Tremor, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Torticollis, Dyst... |
OMIM:618425 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Mental deterioration, Memory impairment, Frontotemporal cerebral atrophy, I... |
ORPHA:275864 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
Thrombocythemia 3 |
|
Ischemic stroke, Thrombocytosis |
OMIM:614521 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Memory impairment, Inappropriate behavior, Astrocytosis, Disinhibition... |
OMIM:600795 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Mental deterioration, Depression, Memory impairment, Seizure, Chorea, Limb dysmetria, Tremor, Rig... |
OMIM:213600 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... |
OMIM:615244 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Ketoacidosis, Hyperglycemia, Polyphagia, Polyuria, Diabetes mellitus |
OMIM:222100 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Seizure, Chorea, Complex febrile seizure, Focal-onset seizure, Focal impai... |
ORPHA:31709 |
Chorea, Benign Hereditary |
|
Dementia, Chorea, Gait disturbance, Frequent falls |
OMIM:118700 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... |
OMIM:618587 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
Spinocerebellar Ataxia 48 |
|
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski ... |
OMIM:618093 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis |
ORPHA:98809 |
Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
Huntington Disease-Like 2 |
|
Involuntary movements, Memory impairment, Chorea, Parkinsonism, Weight loss, Gait disturbance, De... |
ORPHA:98934 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Choreoathetosis, Familial Inverted |
|
Seizure, Rigidity, Gait disturbance, Progressive choreoathetosis, Abnormal pyramidal sign, Dementia |
OMIM:118750 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia |
OMIM:213000 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Memory impairment, Depression, Seizure, Parkinsonism, Cognitive impairment... |
OMIM:616413 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Depression, Seizure, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gai... |
OMIM:607136 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Focal dystonia, Chorea, Limb dystonia, Emotional lability, Tremor, Irrita... |
ORPHA:216873 |
Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity |
OMIM:620425 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Seizure, Chorea, Dystonia, Ataxia, Poor coordination, Paroxysmal dyskinesia, Focal-onset s... |
OMIM:619150 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:616730 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Seizure, Confusion, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, Hyp... |
ORPHA:71277 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... |
OMIM:616981 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Juvenile Huntington Disease |
|
Broad-based gait, Depression, Seizure, Chorea, Gait ataxia, Myoclonus, Irritability, Rigidity, Dy... |
ORPHA:248111 |
Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Ketoacidosis, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia |
OMIM:616187 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Mental deterioration, Depression, Seizure, Confusion, Myoclonus, Gait ataxia, Emotional lability,... |
OMIM:615362 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Focal impaired awareness seizure, Seizure, Chorea, Abnormality of extrapyramidal motor fu... |
ORPHA:382 |
Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Huntington Disease |
|
Depression, Seizure, Chorea, Gait ataxia, Rigidity, Dementia, Bradykinesia |
OMIM:143100 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Poor motor coordination, Difficulty walking, Incoordination, Chorea, Myoclonus, Babinski sign, Cl... |
OMIM:500003 |
Alternating Hemiplegia Of Childhood 2 |
|
Mental deterioration, Seizure, Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, ... |
OMIM:614820 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... |
OMIM:616139 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Convulsive status epilepticus, Inability to walk, Chorea, Dystonia, Focal-onset seizure |
OMIM:618760 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Huntington Disease-Like 1 |
|
Depression, Incoordination, Chorea, Dysmetria, Rigidity, Dementia, Unsteady gait, Mania |
OMIM:603218 |
Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo... |
OMIM:256300 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... |
OMIM:606762 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
Galloway-Mowat Syndrome 8 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... |
OMIM:618349 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respiratory tract infection, L... |
ORPHA:444463 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... |
ORPHA:98810 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre... |
ORPHA:85292 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement |
OMIM:617006 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... |
OMIM:619317 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Epilepsy, Progressive Myoclonic, 8 |
|
Progressive neurologic deterioration, Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait distu... |
OMIM:616230 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Memory impairment, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus... |
OMIM:614018 |
Sporadic Creutzfeldt-Jakob Disease |
|
Memory impairment, Cerebral atrophy, Confusion, Astrocytosis, Cognitive impairment, Neuronal loss... |
ORPHA:204 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Seizure, Dementia, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, D... |
ORPHA:79263 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Huntington Disease-Like 2 |
|
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Weight lo... |
OMIM:606438 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3 |
|
Spasticity, Depression, Seizure, Limb ataxia, Rigidity, Loss of ambulation, Clumsiness, Lower lim... |
OMIM:620447 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Depression, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, ... |
OMIM:162350 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Enlarged tonsils, Leukocytosis |
ORPHA:168621 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Memory impairment, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyra... |
OMIM:618317 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Migraine, Familial Hemiplegic, 1 |
|
Seizure, Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia |
OMIM:617018 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr... |
ORPHA:599373 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Memory impairment, Depression, Hand tremor, Chorea, Postural tremor, Parkinsonism, Cognitive impa... |
OMIM:615483 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Hyper... |
ORPHA:99886 |
Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617575 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Seizure, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia |
OMIM:618501 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Dementia, Chorea, Gait disturbance, Emotional lability |
OMIM:607674 |
Huntington Disease |
|
Mental deterioration, Difficulty walking, Weight loss, Clonus, Bradykinesia, Poor fine motor coor... |
ORPHA:399 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Atonic seizure, Generalized myoclonic seizure |
OMIM:612437 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Cognitive impairment, Ataxia, Testicular atrophy, Infertility |
OMIM:613909 |
Inherited Creutzfeldt-Jakob Disease |
|
Depression, Global brain atrophy, Central nervous system degeneration, Confusion, Chorea, Astrocy... |
ORPHA:282166 |
Gordon Holmes Syndrome |
|
Absence of pubertal development, Chorea, Primary amenorrhea, Hypogonadotropic hypogonadism, Oligo... |
OMIM:212840 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Generalized tonic seizure, Focal tonic seizure, Dystonia, Athetosis |
OMIM:615473 |
3-Methylglutaconic Aciduria, Type Iii |
|
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, Cognitive impair... |
OMIM:258501 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Spasticity, Seizure, Confusion, Myoclonus, Paroxysmal dystonia, Hemiparesis,... |
OMIM:606777 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Mental deterioration, Depression, Myoclonus, Abnormality of extrapyramidal motor function, Status... |
OMIM:204300 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Cognitive impairment, Testicular atrophy, Male infertility, Progressive cerebellar a... |
ORPHA:276183 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia |
OMIM:611031 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Cho... |
OMIM:618917 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:22 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
Spinocerebellar Ataxia 50 |
|
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia |
OMIM:620158 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:617831 |
Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... |
OMIM:619191 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... |
OMIM:614470 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Impaired lymphocyte transforma... |
OMIM:617585 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Mental deterioration, Spasticity, Seizure, Inability to walk, Chorea, Decreased body weight, Rigi... |
OMIM:617672 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal si... |
OMIM:615924 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt... |
ORPHA:60026 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
Huntington Disease-Like 3 |
|
Spasticity, Broad-based gait, Seizure, Extrapyramidal muscular rigidity, Chorea, Abnormality of e... |
ORPHA:157946 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia, Infantile spasms, Seizure |
OMIM:128200 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... |
OMIM:615285 |
Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor |
ORPHA:308 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... |
ORPHA:75564 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... |
OMIM:619491 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... |
OMIM:158600 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Mental deterioration, Chorea, Parkinsonism |
OMIM:616922 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Spinocerebellar Ataxia 7 |
|
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... |
OMIM:164500 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Mental deterioration, Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficult... |
ORPHA:2590 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Seizure, Myoclonus, Ataxia, Dementia, Generalized myoclonic seizure |
OMIM:208700 |
Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... |
ORPHA:567544 |
Pontocerebellar Hypoplasia, Type 2D |
|
Seizure, Chorea, Appendicular spasticity, Irritability, Clonus, Spastic tetraplegia |
OMIM:613811 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Depression, Falls, Oculogyric crisis, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movement... |
ORPHA:13 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... |
OMIM:104290 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... |
OMIM:616421 |
Spinocerebellar Ataxia Type 2 |
|
Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkinsonism, Dementia, Kinetic t... |
ORPHA:98756 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease... |
OMIM:604387 |
Huntington Disease-Like 3 |
|
Mental deterioration, Spasticity, Seizure, Chorea, Abnormality of extrapyramidal motor function, ... |
OMIM:604802 |
Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Myelodysplasia, Macr... |
ORPHA:86841 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... |
ORPHA:95434 |
Mody |
|
Abnormal circulating insulin concentration, Nephropathy, Abnormal oral glucose tolerance, Glycosu... |
ORPHA:552 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... |
ORPHA:36387 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm... |
OMIM:602066 |
Dravet Syndrome |
|
Ataxia, Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Generalized no... |
OMIM:607208 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Folinic Acid-Responsive Seizures |
|
Ataxia, Broad-based gait, Seizure, Difficulty walking, Chorea, Irritability, Dystonia, Clonic sei... |
ORPHA:79097 |
Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Irritability, Tonic ... |
OMIM:615006 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Spinocerebellar Ataxia Type 37 |
|
Falls, Somatic sensory dysfunction, Myoclonus, Limb dysmetria, Cogwheel rigidity, Tremor, Gait di... |
ORPHA:363710 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chorea, Hepatic stea... |
ORPHA:369840 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dementia, Unsteady ga... |
OMIM:301020 |
Sandhoff Disease, Adult Form |
|
Mental deterioration, Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle... |
ORPHA:309169 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Spasticity, Myoclonic seizure, Oculogyric crisis, Seizure, Inability to walk, Epileptic spasm, Ch... |
OMIM:614254 |
Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia |
OMIM:610951 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Cognitive impairment |
OMIM:607341 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... |
ORPHA:79137 |
Dystonia 22, Juvenile-Onset |
|
Mental deterioration, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lowe... |
OMIM:620453 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... |
OMIM:617665 |
Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
Sydenham Chorea |
|
Chorea, Emotional lability, Irritability, Unsteady gait, Hemiballismus |
ORPHA:306731 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... |
OMIM:607594 |
Huntington Disease-Like 1 |
|
Involuntary movements, Depression, Memory impairment, Seizure, Incoordination, Chorea, Gait ataxi... |
ORPHA:157941 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short stepped shuffling gait, Shuffling gait, Memory impairment, Falls, Frontotemporal cerebral a... |
ORPHA:412066 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... |
ORPHA:251282 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment,... |
OMIM:615768 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Failure to thrive, Seizure, Chorea, Infantile spasms, Athetosis, Choreoathetosis |
OMIM:309541 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Spasticity, Involuntary movements, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to... |
OMIM:617493 |
Malaria |
|
Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thromb... |
ORPHA:673 |
Autosomal Spastic Paraplegia Type 72 |
|
Memory impairment, Postural tremor, Rigidity, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... |
OMIM:606159 |
Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Astrocytosis, Gait ataxia, Loss of ambulation, Basal ganglia gliosis, Gait dis... |
ORPHA:225154 |
Dystonia 37, Early-Onset, With Striatal Lesions |
|
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... |
OMIM:620427 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Cognitive imp... |
ORPHA:98763 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Depression, Generalized non-motor (absence) seizure, Seizure, Chorea, Infa... |
ORPHA:485350 |
Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... |
ORPHA:98762 |
Corticobasal Syndrome |
|
Involuntary movements, Memory impairment, Limb myoclonus, Somatic sensory dysfunction, Progressiv... |
ORPHA:454887 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Metabolic acidosis, Decreased circulating re... |
OMIM:613677 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dysto... |
OMIM:261630 |
Immunodeficiency 48 |
|
Pneumonia, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte tra... |
OMIM:269840 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... |
ORPHA:397946 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... |
ORPHA:53583 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... |
OMIM:607317 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Tremor, Distal amyotrophy, Distal sensory impairment |
OMIM:614369 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Mental deterioration, Shuffling gait, Memory impairment, Depression, Global brain atrophy, Somati... |
OMIM:221820 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG, Recurrent ... |
OMIM:613495 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... |
OMIM:607616 |
Immunodeficiency 104 |
|
Pneumonia, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia |
OMIM:608971 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Mental deterioration, Depression, Tip-toe gait, Neurodegeneration, Gait disturbance, Motor tics, ... |
OMIM:615643 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Landau-Kleffner Syndrome |
|
Speech apraxia, Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social... |
ORPHA:98818 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Seizure, Progressive psychomotor deterioration, Tetraparesis... |
ORPHA:363400 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Seizure, Gait ataxia, Emotional lability, Limb dystonia, Parkinsonism... |
ORPHA:71517 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... |
ORPHA:53351 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:131400 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, Cryptorchidism, Hypothyroidism, Bi... |
OMIM:613970 |
Developmental And Epileptic Encephalopathy 78 |
|
Spasticity, Seizure, Cerebral palsy, Inability to walk, Chorea, Status epilepticus |
OMIM:618557 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Epileptic spasm, Tremor, Seizure |
OMIM:619561 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Sneddon Syndrome |
|
Mental deterioration, Memory impairment, Seizure, Chorea, Tremor, Hemiparesis, Dementia |
ORPHA:820 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss o... |
OMIM:208920 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Seizure, Tetraparesis, Inability to walk, Confusion, Chorea, Gait ataxia, Act... |
OMIM:607483 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Spasticity, Failure to thrive, Seizure, Generalized dystonia, Inability to walk, Decreased liver ... |
ORPHA:70472 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Mental deterioration, Spasticity, Involuntary movements, Chorea, Rigidity, Parkins... |
ORPHA:98759 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... |
ORPHA:314632 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,... |
OMIM:150550 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Gait disturbance, Bil... |
OMIM:618090 |
Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia... |
ORPHA:725 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Chorea, Bradykinesia, Ataxia |
OMIM:618683 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
Episodic Ataxia, Type 9 |
|
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Dyst... |
OMIM:618924 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Attention deficit hyperactivity disorder, Lower limb spasticity, Bilateral ton... |
OMIM:619639 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616329 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... |
OMIM:603552 |
Ataxia-Telangiectasia-Like Disorder |
|
Chorea, Gait ataxia, Myoclonus, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dystonia... |
ORPHA:251347 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea |
OMIM:613291 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Multicystic kidney dysplasia, Acute kidney injury, Polydipsia, Renal agenesis, Abnor... |
ORPHA:93111 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Impaired pain sensation, Seizure, Inability to walk, Chorea, Gait ataxia, Abnormality... |
ORPHA:500180 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impaired tandem... |
OMIM:300423 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired neutrophil chemotaxis, Neu... |
OMIM:618986 |
Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss, Nocturia, Diabetes insipidus |
ORPHA:178029 |
Infantile Dystonia-Parkinsonism |
|
Oculogyric crisis, Cerebral palsy, Chorea, Irritability, Dystonia, Parkinsonism, Abnormal pyramid... |
ORPHA:238455 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... |
ORPHA:2585 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait a... |
ORPHA:225147 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Seizure, Rigidity, Loss of ambulation, Dystonia,... |
OMIM:615528 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... |
OMIM:604326 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis |
OMIM:619603 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Transient ischemic attack, Leukocytosis, Splenomegal... |
ORPHA:3318 |
Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Failure to thrive, Portal hyper... |
ORPHA:213 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Myoclonus, Dysmetria, Tremor, Impaired tandem gait, Bilateral tonic-clonic ... |
OMIM:619028 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... |
OMIM:616366 |
Kallmann Syndrome With Spastic Paraplegia |
|
Spastic paraplegia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cr... |
OMIM:308750 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ... |
OMIM:254800 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Depression, Seizure, Abnormality of the liver, Intention tremor, Tremor, Hemiparesis,... |
OMIM:614307 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
Spinocerebellar Ataxia Type 28 |
|
Spasticity, Depression, Memory impairment, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... |
ORPHA:101109 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc... |
ORPHA:100988 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Tremor, Fasciculations |
OMIM:313200 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia |
OMIM:613839 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... |
OMIM:619468 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated circulating hepatic transaminase concentration, Gait disturbance, Hepatic steatosis, Imp... |
OMIM:618400 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Thrombocytopenia, Neutropenia, An... |
OMIM:159550 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Br... |
OMIM:617836 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
Immunodeficiency 32B |
|
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, ... |
OMIM:226990 |
Developmental And Epileptic Encephalopathy 53 |
|
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... |
OMIM:617389 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax... |
OMIM:619738 |
Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seizure, Ata... |
OMIM:617106 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... |
OMIM:617284 |
Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp |
OMIM:159900 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus |
OMIM:606176 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Spasticity, Seizure, Cerebral palsy, Chorea, Babinski sign, Bilateral tonic-clonic seizure with g... |
OMIM:618451 |
Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Bilateral ... |
OMIM:617113 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to wa... |
ORPHA:330050 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Seizure, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxia,... |
OMIM:618088 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Polymyoclonus, Infantile |
|
Myoclonus, Irritability, Ataxia |
OMIM:263550 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations |
OMIM:615048 |
Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Depression, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Primary amenorrhea, Parkinsonism,... |
OMIM:157640 |
Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Memory impairment, Fasciculations, Chorea, Gait imbalance, Postura... |
ORPHA:98755 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria |
OMIM:618347 |
Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w... |
ORPHA:401768 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
|