| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Spinocerebellar Degeneration With Slow Eye Movements |
|
Spinocerebellar tract degeneration, Gait disturbance |
OMIM:271322 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Type II diabetes mellitus, Elevated transferrin satu... |
OMIM:620121 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Spinal cord lesion, Degeneration of the lateral corticospinal tracts, Abnormal lower-limb motor e... |
ORPHA:320355 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
| Spastic Paraplegia 2, X-Linked |
|
Spastic gait, Dysmetria, Loss of ambulation, Degeneration of the lateral corticospinal tracts, Sp... |
OMIM:312920 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Spastic gait, Spinal cord lesion, Abnormal lower-limb motor evoked potentials, Difficulty walking... |
ORPHA:171612 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Spastic gait, Limb ataxia, Spinal cord lesion, Abnormal lower-limb motor evoked potentials, Diffi... |
ORPHA:100989 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia |
ORPHA:22 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Spinal cord lesion, Degeneration of the lateral corticospinal tracts, Abnormal lower-limb motor e... |
ORPHA:171863 |
| Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... |
OMIM:605021 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic... |
OMIM:615006 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal lower motor neuron morphology, Unsteady gait, ... |
ORPHA:95434 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Gait imbalance, Spastic gait |
ORPHA:247604 |
| Dystonia 9 |
|
Morphological abnormality of the pyramidal tract, Choreoathetosis, Episodic ataxia |
OMIM:601042 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Spastic gait, Limb ataxia, Spinal cord lesion, Abnormal lower-limb motor evoked potentials, Diffi... |
ORPHA:100999 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
| Developmental And Epileptic Encephalopathy 9 |
|
Ventriculomegaly, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal h... |
OMIM:300088 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
| Amyotrophic Lateral Sclerosis 8 |
|
Morphological abnormality of the pyramidal tract, Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:608627 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Type I diabetes mellitus, Pancytopenia, Increased mean corp... |
OMIM:620044 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Dorsal column degeneration, Spinocerebellar tract degeneration, At... |
ORPHA:3177 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
| Spinocerebellar Ataxia 13 |
|
Gait ataxia, Limb ataxia, Morphological abnormality of the pyramidal tract, Limb dysmetria, Progr... |
OMIM:605259 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochlore... |
OMIM:214700 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Morphological abnormality of the corticospinal tract |
OMIM:607225 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Spinocerebellar Ataxia 10 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Morphological abnormality of the pyramidal tract, D... |
OMIM:603516 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:614373 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... |
ORPHA:139426 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:199296 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Ventriculomegaly, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bila... |
OMIM:616540 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Adult Krabbe Disease |
|
EEG abnormality, Gait disturbance, Ataxia, Morphological abnormality of the pyramidal tract, Morp... |
ORPHA:206448 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Gerstmann-Straussler-Scheinker Syndrome |
|
Gait ataxia, Morphological abnormality of the pyramidal tract |
ORPHA:356 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Huntington Disease-Like 3 |
|
Morphological abnormality of the pyramidal tract, Unsteady gait, Ataxia |
OMIM:604802 |
| Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly, Inability to walk, Focal clonic seizure, Ataxia, Tonic seizure, Bilateral tonic... |
OMIM:617904 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia, Hyperactivity |
OMIM:238700 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Degeneration of the lateral corticospinal tracts, Abnormal lower-limb motor evoked potentials, Di... |
ORPHA:444099 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Corticospinal tract atrophy, Ataxia |
OMIM:551500 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Ventriculomegaly, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic ... |
OMIM:617391 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Spinal cord lesion, Degeneration of the lateral corticospinal tracts, Abnormal lower-limb motor e... |
ORPHA:171617 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Gait ataxia, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... |
OMIM:617831 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
| Dystonia 16 |
|
Morphological abnormality of the pyramidal tract, Gait disturbance |
OMIM:612067 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Morphological abnormality of the pyramidal tract, Gait disturbance, Tip-toe gait |
ORPHA:83629 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... |
OMIM:616230 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:614018 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Spastic gait, Limb ataxia, Spinal cord lesion, Abnormal lower-limb motor evoked potentials, Diffi... |
ORPHA:100993 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Spinocerebellar Ataxia 8 |
|
Morphological abnormality of the pyramidal tract, Progressive cerebellar ataxia |
OMIM:608768 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Developmental And Epileptic Encephalopathy 67 |
|
Recurrent hand flapping, Generalized myoclonic seizure, Gait disturbance, Focal hemiclonic seizur... |
OMIM:618141 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Loss of ambulation, Decreased compound muscle action pote... |
OMIM:606353 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Agitation, Elevated circulating cre... |
ORPHA:94093 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Morphological abnormality of the pyramidal tract, Unsteady gait, Decreased nerve conduction veloc... |
OMIM:256600 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... |
OMIM:618396 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... |
OMIM:602433 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Failure to thrive, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Bilateral tonic-clo... |
OMIM:616056 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Parkinson-Dementia Syndrome |
|
Morphological abnormality of the pyramidal tract |
OMIM:260540 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Failure to thrive, Increased blood urea nitrogen... |
OMIM:613845 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Morphological abnormality of the pyramidal tract, Steppage gait, Lateral ventricle dilatation |
OMIM:256850 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Seizure, Falls, Ventriculomegaly, Focal-onset seizure, Focal motor status epilepticus, Ataxia, Br... |
OMIM:619150 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology, Gait disturbance, Neurogenic bla... |
OMIM:263570 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Failure to thrive, Macrocytic anemia, Incre... |
ORPHA:2169 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... |
OMIM:267700 |
| L-2-Hydroxyglutaric Aciduria |
|
Morphological abnormality of the pyramidal tract, Ataxia |
OMIM:236792 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation, Focal-onset seizure, Generalized myoclonic seizure, Focal atonic se... |
ORPHA:101071 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia... |
OMIM:602522 |
| Majeed Syndrome |
|
Flexion contracture, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:609628 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... |
OMIM:615369 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
| Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... |
OMIM:613855 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Difficulty walking |
OMIM:619191 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604352 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal erythrocyte enzyme level, Agitation, Incre... |
ORPHA:100924 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Falls, Ventriculomegaly, Bilateral tonic-clonic seizure, Dysmetria, Unsteady gait |
OMIM:203740 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Tip-toe gait, Spastic gait, Ataxia, Degeneration of the lateral corticospinal tracts, Obesity, Ag... |
OMIM:604360 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Small for gestational age, Hypokalemia, Inc... |
OMIM:601678 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia, Polydipsia |
ORPHA:223 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Small for gestational age, Hypokalemia, Increased circulating renin level, Fa... |
ORPHA:89938 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance |
ORPHA:75563 |
| Hemochromatosis Type 2 |
|
Diabetes mellitus, Elevated transferrin saturation, Increased circulating ferritin concentration,... |
ORPHA:79230 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Small for gestational age, Hypokalemia, Inc... |
OMIM:241200 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Paucity of anterior horn motor neurons, Facial diplegia, Difficulty walking, A... |
OMIM:611890 |
| Myxopapillary Ependymoma |
|
Unsteady gait, Abnormal conus terminalis morphology |
ORPHA:251643 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:603563 |
| Primary Lateral Sclerosis |
|
Spastic gait, Cervical spinal cord atrophy, Abnormal lower motor neuron morphology, Atrophy of th... |
ORPHA:35689 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:600363 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
| Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... |
OMIM:603553 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... |
ORPHA:35878 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
| Hereditary Coproporphyria |
|
Atypical scarring of skin, Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79273 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Gait disturbance |
ORPHA:139578 |
| Spastic Paraplegia 3, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:182600 |
| Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss, Hyponatremia |
ORPHA:178029 |
| Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction, Abnormality of the spinocerebellar tracts, Ataxia, Mo... |
OMIM:601992 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... |
ORPHA:231222 |
| Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
| Alg8-Cdg |
|
Anemia, Small for gestational age, Abnormality of subcutaneous fat tissue, Camptodactyly, Failure... |
ORPHA:79325 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Abnormal upper motor neuron morphology, Progres... |
ORPHA:275872 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Gait ataxia, Spastic ataxia, Spastic gait, Dysdiadochokinesis, Dysmetria, Degeneration of the lat... |
OMIM:607259 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, ... |
ORPHA:1930 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
| Foxg1 Syndrome |
|
Inability to walk, Stereotypical hand wringing, Focal-onset seizure, Myoclonus, Choreoathetosis, ... |
ORPHA:561854 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Morphological abnormality of the pyramidal tract, Inability to walk |
OMIM:607483 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia... |
ORPHA:199299 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Hyponatremia |
OMIM:608688 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Lymphocytosis, Hyperbilirubi... |
ORPHA:1667 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression |
OMIM:251250 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Falls, Shuffling gait, Short stepped shuffling gait, Abnormal neuron morpho... |
ORPHA:412066 |
| Dihydropyrimidinase Deficiency |
|
Morphological abnormality of the pyramidal tract |
OMIM:222748 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
| Boucher-Neuhauser Syndrome |
|
Gait ataxia, Abnormal upper motor neuron morphology, Ataxia |
OMIM:215470 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Hemochromatosis, Type 4 |
|
Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased circula... |
OMIM:606069 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Morphological abnormality of the pyramidal tract |
OMIM:613135 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Small for gestational age, Leukocytosis, Hyponatremia, Hyperglycemi... |
ORPHA:391673 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
OMIM:617924 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia... |
ORPHA:95409 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Hyperkalemia, Lymphopenia, Hypoglycemia, Thrombocytope... |
OMIM:617053 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait |
ORPHA:2590 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
| Spastic Paraplegia 4, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:182601 |
| Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
| Renal Hypoplasia, Bilateral |
|
Anemia, Small for gestational age, Glycosuria, Hyperkalemia, Failure to thrive, Hyponatremia |
ORPHA:97362 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Failure t... |
ORPHA:90794 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Weight loss, Dec... |
OMIM:619381 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
| Narp Syndrome |
|
Progressive gait ataxia, Corticospinal tract atrophy, Ataxia |
ORPHA:644 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Aicardi-Goutieres Syndrome 1 |
|
Morphological abnormality of the pyramidal tract, Inability to walk |
OMIM:225750 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Decreased body weight, Ataxia |
ORPHA:255138 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia |
ORPHA:261250 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Whipple Disease |
|
Anemia, Cachexia, Insulin resistance, Hyponatremia, Splenomegaly, Polydipsia |
ORPHA:3452 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Addison Disease |
|
Hyperuricemia, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia... |
ORPHA:85138 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin conce... |
OMIM:604290 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... |
ORPHA:124 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum iron |
OMIM:613313 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression, Waddl... |
ORPHA:52430 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Inability to walk, Myoclonus, Abnormal repetitive mannerisms, Atonic s... |
ORPHA:411986 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Adrenomyeloneuropathy |
|
Abnormality of central somatosensory evoked potentials, Spastic gait, Abnormal spinal cord morpho... |
ORPHA:139399 |
| Hepatocellular Carcinoma |
|
Anemia, Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hy... |
ORPHA:88673 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Pyridoxine-responsive sideroblastic anemia, Abnorma... |
ORPHA:79096 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking |
OMIM:613954 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Cortical myoclonus, Typical absence seizure, Seizure, Inability to walk, Focal... |
ORPHA:168491 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Scarring, Hyponatremia |
ORPHA:79473 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypoglycemia, Hypercholesterolemia |
OMIM:306000 |
| Pituitary Apoplexy |
|
Increased circulating cortisol level, Hypoglycemia, Normochromic anemia, Hyponatremia |
ORPHA:95613 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leukocytosis, ... |
ORPHA:810 |
| Familial Glucocorticoid Deficiency |
|
Weight loss, Ketotic hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Failure to... |
ORPHA:361 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:85277 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Difficulty walking, Seizure, Abnormal repetitive mannerisms, Waddling gait |
ORPHA:280763 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Normochromic anemia, Hyponatremia |
ORPHA:95513 |
| Alg12-Cdg |
|
B lymphocytopenia, Camptodactyly, Failure to thrive, Recurrent hypoglycemia, Hyponatremia, Hypoch... |
ORPHA:79324 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia, Hyponatremia |
ORPHA:90791 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Anemia, Weight loss, Hypersplenism, Cachexia, Hyperkalemia, Steatorrhea, He... |
ORPHA:275761 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:167 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Hyperkalemia, Autoimmune thrombocytopenia, Severe B lymphoc... |
ORPHA:293978 |
| Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gait disturbance |
OMIM:221770 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:617872 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Morphological abnormality of the pyramidal tract, Ataxia |
OMIM:612199 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Gait disturbance, Collectionism, Abnormal repetitive mannerisms |
ORPHA:275864 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:95512 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Obesity, Normochromic anemia |
ORPHA:91355 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Legionnaires Disease |
|
Cellulitis, Splenomegaly, Lymphopenia, Hyponatremia |
ORPHA:549 |
| Christianson Syndrome |
|
Gait ataxia, Generalized-onset seizure, Ventriculomegaly, Truncal ataxia, Abnormal repetitive man... |
ORPHA:85278 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Lar... |
ORPHA:552 |
| Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum iron |
OMIM:604250 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618835 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618839 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Tip-toe gait, Spastic gait, Ataxia, Abnormal lower motor neuron morphology, Amyotrophic lateral s... |
OMIM:205100 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Inability to walk by childhood/adolescence, Steppage gait |
ORPHA:99947 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adip... |
ORPHA:363400 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... |
OMIM:618620 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia |
OMIM:261750 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulatin... |
ORPHA:411634 |
| Castleman Disease |
|
Anemia, Weight loss, Decreased mean corpuscular volume, Elevated circulating C-reactive protein c... |
ORPHA:160 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| 5Q14.3 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:228384 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait ataxia, Abnormal upper motor neuron morphology, Gait disturbance, Spastic gait |
OMIM:601162 |
| Smith-Magenis Syndrome |
|
EEG abnormality, Corticospinal tract hypoplasia, Gait disturbance, Obesity, Failure to thrive in ... |
ORPHA:819 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... |
OMIM:606070 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Narcolepsy, Obesity |
OMIM:614250 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hyponatremia, Dysphagia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemi... |
OMIM:219800 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Abnormal sensory nerve conduction velocity, Abnormal spinal cord morphology, Gait di... |
ORPHA:88628 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Repetitive compulsive behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:352490 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Myoclonic seizure, Infantile spasms, Abnormal repetitive mannerisms, Neurogenic bladder |
ORPHA:572013 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Gait disturbance, Seizure, Abnormal repetitive mannerisms |
ORPHA:457240 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Flexion contracture, Microcytic anemia |
ORPHA:98791 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Myoclonic spasms, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Loss o... |
ORPHA:79264 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:168558 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:289548 |
| Foix-Alajouanine Syndrome |
|
Myelitis, Gait imbalance, Hyperintensity of MRI T2 signal of the spinal cord, Spinal cord lesion,... |
ORPHA:79093 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Diabetes mellitus, Leukocytosis, Hyponatremia, Thro... |
ORPHA:544482 |
| Machado-Joseph Disease Type 3 |
|
Neurogenic bladder, Progressive gait ataxia, Degeneration of anterior horn cells, Abnormal lower ... |
ORPHA:276244 |
| Eisenmenger Syndrome |
|
Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ... |
ORPHA:97214 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hypouricemia |
OMIM:616026 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Anemia, Hyperaldosteronism, Hypophosphatemia, Hypokalemia, Failure to thriv... |
ORPHA:534 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Narcolepsy, Polyphagia, Hyperlipidemia, Hyponatremia, Hyperglycemia, Obesity, Polyd... |
ORPHA:293987 |
| Holoprosencephaly |
|
Diabetes mellitus, Hypoglycemia, Congenital diaphragmatic hernia, Hyponatremia, Omphalocele, Abno... |
ORPHA:2162 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc... |
OMIM:254780 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
| Japanese Encephalitis |
|
Elbow flexion contracture, Neutrophilia, Hyponatremia |
ORPHA:79139 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss of ambulation |
OMIM:614298 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F |
OMIM:619769 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
| Rett Syndrome |
|
Seizure, Inability to walk, Stereotypical hand wringing, Gait disturbance, Abnormal repetitive ma... |
ORPHA:778 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... |
OMIM:619991 |
| Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Small for gestational age, Imbalanced hemoglobin synthesis, I... |
ORPHA:330015 |
| 4Q21 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:238750 |
| 48,Xxyy Syndrome |
|
Ataxia, Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:10 |
| Acute Intermittent Porphyria |
|
Pseudobulbar paralysis, Restlessness, Hyponatremia |
ORPHA:79276 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| 2Q23.1 Microdeletion Syndrome |
|
Ataxia, Seizure, Abnormal repetitive mannerisms |
ORPHA:228402 |
| Lamb-Shaffer Syndrome |
|
Ataxia, Seizure, Abnormal repetitive mannerisms |
ORPHA:530983 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Inability to walk, Abnormal spinal cord morphology, Gait disturbance, Ataxia, Dysmetria, Difficul... |
ORPHA:139396 |
| Citrullinemia Type Ii |
|
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, De... |
ORPHA:247585 |
| Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... |
ORPHA:465508 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, EEG with focal slow activity, EEG with focal spikes, Interictal EEG abnormality, Abnorm... |
ORPHA:83597 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells |
ORPHA:1145 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi... |
OMIM:260400 |
| Childhood Disintegrative Disorder |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:168782 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| African Iron Overload |
|
Diabetes mellitus, Elevated transferrin saturation, Increased circulating ferritin concentration,... |
ORPHA:139507 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the pyramidal tract, Agenesis of corpus callosum |
OMIM:253800 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Weight loss, Normocytic anemia, Elevated circulating C-reactive protein conce... |
ORPHA:91500 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:500159 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Nocturnal seizures, Abnormal repetiti... |
ORPHA:98784 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Seizure, Abnormal repetitive mannerisms |
ORPHA:927 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thrombo... |
ORPHA:731 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia, Hyperactivity |
OMIM:618314 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Decreased circulating ceruloplasmin concentration, Decreased serum iron, Decr... |
ORPHA:48818 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Seizure, Inability to walk, Generalized myoclonic seizure, Abnormal repetitive mannerisms, Bilate... |
ORPHA:457351 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Alazami Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Type II diabetes mellitus, Narcolepsy |
OMIM:604121 |
| Thymoma |
|
Weight loss, Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Normal pressure hydrocephalus, Inability to walk, Seizure, Focal-onset seizure, L... |
ORPHA:300570 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:313892 |
| 3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Ataxia, Abnormal repetitive mannerisms, Bilateral tonic-clonic sei... |
ORPHA:435638 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Neuroge... |
ORPHA:496641 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:3306 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Seizure, Lateral ventricle dilatation, Ataxia, Abnormal repetitive mannerisms, Unsteady gait |
ORPHA:457279 |
| Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:261197 |
| Superficial Siderosis |
|
Dysdiadochokinesis, Progressive gait ataxia, Abnormal spinal cord morphology, Limb ataxia, Ataxia... |
ORPHA:247245 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Small for gestational age, Decreased circulating renin level, Decr... |
OMIM:201750 |
| 22Q11.2 Duplication Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Abnormal hemoglobin |
ORPHA:847 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Ventriculome... |
ORPHA:513456 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:261144 |
| Niemann-Pick Disease Type C |
|
Hepatosplenomegaly, Narcolepsy, Bone-marrow foam cells, Dysphagia, Disinhibition, Splenomegaly |
ORPHA:646 |
| Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Seizure, Abnormal repetitive mannerisms |
ORPHA:2479 |
| Cystinosis |
|
Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:213 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Umbilical hernia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:476126 |
| Visceral Steatosis, Congenital |
|
Hypocalcemia, Hypoglycemia |
OMIM:228100 |
| Primary Fanconi Renotubular Syndrome |
|
Glycosuria, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypoglycemia, Hypophosphat... |
ORPHA:3337 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent hand flapping, Seizure, Abnormal repetitive mannerisms |
ORPHA:449291 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Generalized-onset seizure, Seizure, Inability to walk, Ventriculomegaly, Abnor... |
ORPHA:508533 |
| 7Q11.23 Microduplication Syndrome |
|
Seizure, Ventriculomegaly, Hydrocephalus, Abnormal repetitive mannerisms, Dysmetria, Unsteady gai... |
ORPHA:96121 |
| 2Q37 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra... |
ORPHA:309854 |
| Williams Syndrome |
|
Gait imbalance, Gait disturbance, Ataxia, Spina bifida occulta, Dysmetria, Obesity, Failure to th... |
ORPHA:904 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:391307 |
| Kleefstra Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:261494 |
| White-Sutton Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Abnormal repetitive manne... |
ORPHA:468678 |
| African Trypanosomiasis |
|
Weight loss, Abnormality of circulating cortisol level, Hepatosplenomegaly, Narcolepsy, Splenomegaly |
ORPHA:3385 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Seizure, Ventriculomegaly, Gait disturbance, Simple febrile seizure, Abnormal repetitive mannerisms |
ORPHA:464311 |
| Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Ventriculomegaly, Gait di... |
ORPHA:464306 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Seizure, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Compulsive b... |
ORPHA:177907 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Choreoathetosis, Ataxia, Repetitive compulsive behavior, Abnormal repetitive mannerisms |
ORPHA:522077 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ventriculomegaly, Seizure, Abnormal repetitive mannerisms, Lobar holoprosencephaly |
ORPHA:468631 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure, Abnormal repetitive mannerisms |
ORPHA:447997 |
| Transketolase Deficiency |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:488618 |
| Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Seizure, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epile... |
ORPHA:217253 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology, Ataxia |
ORPHA:68 |
| Wiedemann-Steiner Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:319182 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida, Ventriculomegaly, Abnormal repetitive mannerisms |
ORPHA:508498 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Seizure, Abnormal repetitive mannerisms |
ORPHA:580 |
| 1P36 Deletion Syndrome |
|
Gait disturbance, Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:1606 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Limb Body Wall Complex |
|
Spina bifida occulta, Abnormal spinal cord morphology, Spina bifida |
ORPHA:2369 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353277 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353281 |
| Mowat-Wilson Syndrome |
|
Seizure, Inability to walk, Ventriculomegaly, Focal-onset seizure, Status epilepticus, Abnormal r... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Seizure, Inability to walk, Lateral ventricle dilatation, Focal-onset seizure, Abnormal repetitiv... |
ORPHA:261537 |
| Tetrasomy 9P |
|
Abnormal spinal cord morphology |
ORPHA:3310 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Seizure, Inability to walk, Lateral ventricle dilatation, Focal-onset seizure, Abnormal repetitiv... |
ORPHA:261552 |
| Norrie Disease |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:649 |
| Duane Retraction Syndrome |
|
Spina bifida occulta, Seizure |
ORPHA:233 |
| Duane Retraction Syndrome 2 |
|
|
OMIM:604356 |
