| C1Q Deficiency 1 |
|
Recurrent infections, Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulo... |
OMIM:613652 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bact... |
OMIM:613779 |
| Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... |
OMIM:614420 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Autoimmu... |
OMIM:617006 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Antinuclear antibody positivity |
OMIM:613495 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Autoimmunity, Serositis... |
ORPHA:567544 |
| 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 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| 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 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... |
OMIM:615369 |
| Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... |
OMIM:614372 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Recurrent bacterial infections, Thi... |
OMIM:609814 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... |
OMIM:618396 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Developmental And Epileptic Encephalopathy 19 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... |
OMIM:615744 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis |
OMIM:247800 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... |
OMIM:609446 |
| 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 |
| Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:616056 |
| Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... |
ORPHA:725 |
| 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 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure |
OMIM:617771 |
| Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... |
ORPHA:307 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... |
OMIM:617831 |
| 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 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure |
OMIM:618596 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Pr... |
OMIM:613913 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Thyroiditis, Autoimmune thrombocytopenia, Glomerul... |
OMIM:619375 |
| 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 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Recurrent bronchitis, Autoimmunity, Nephritis |
OMIM:216950 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... |
OMIM:610984 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... |
OMIM:613953 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... |
OMIM:618482 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... |
OMIM:616421 |
| Systemic Lupus Erythematosus |
|
Malar rash, Arthritis, Lupus nephritis, Nephritis, Pericarditis, Systemic lupus erythematosus, An... |
OMIM:152700 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
| Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... |
OMIM:618587 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Pr... |
OMIM:608709 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Persistent EBV viremia, Recurrent lower respiratory tract infections, Nephrotic syndrome, Stage 5... |
OMIM:615559 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... |
ORPHA:2382 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... |
OMIM:617113 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:618141 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:616409 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonus, Generalized myoclo... |
ORPHA:2590 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... |
OMIM:614018 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Focal-o... |
ORPHA:36387 |
| Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:619157 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Seizure, Focal motor seizure, Non-convulsive status epilepticus witho... |
ORPHA:98818 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Arthritis, Crescentic glomerulonephritis, Antinuclear antibody positi... |
OMIM:616414 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... |
OMIM:619317 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure |
OMIM:254800 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria |
OMIM:314000 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Panuve... |
OMIM:607665 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... |
OMIM:613860 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... |
ORPHA:86909 |
| Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Generalized non-motor (absen... |
OMIM:617665 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren... |
OMIM:608184 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... |
OMIM:613855 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure |
OMIM:611631 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... |
ORPHA:275 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... |
OMIM:617711 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... |
OMIM:620145 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... |
OMIM:619616 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:619000 |
| Developmental And Epileptic Encephalopathy 18 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:615476 |
| Dravet Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... |
ORPHA:33069 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
| Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... |
ORPHA:101070 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Coccidioidomycosis, Recurrent mycobacterial infections, Disseminated nontuberculou... |
ORPHA:319552 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Focal-onset seizure, Focal sensory seizure, Generalized-onset seizure, Infantile spasms |
OMIM:602066 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Gener... |
OMIM:271980 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Seizure, Generalized non-motor (absence) seizure |
ORPHA:98811 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence... |
OMIM:617810 |
| Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurren... |
OMIM:240500 |
| Pyridoxine-Dependent Epilepsy |
|
Seizure, Focal-onset seizure, Status epilepticus, Early onset absence seizures, Atonic seizure, E... |
ORPHA:3006 |
| Idiopathic Pulmonary Hemosiderosis |
|
Autoimmune antibody positivity, Rheumatoid factor positive, Glomerulonephritis, Smooth muscle ant... |
ORPHA:99931 |
| Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
| Postinfectious Vasculitis |
|
Severe Epstein Barr virus infection, Recurrent Staphylococcus aureus infections, Cytoplasmic anti... |
ORPHA:48435 |
| Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
ORPHA:1945 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Cytoplasmic antineutrophil ... |
ORPHA:93126 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Eyelid myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizur... |
OMIM:619913 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Colonic eosinophilia, Recurrent viral infections, Atopic dermatitis, Membrano... |
OMIM:618999 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonic absence seizure |
OMIM:617836 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... |
ORPHA:567548 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Severe Epstein Barr virus infection, Chilblains, Membranoproliferative glomerulonephritis, Intest... |
OMIM:619858 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... |
OMIM:615400 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent fungal infections, Rhinitis, Recurrent Staphylococcus aureus infections, Recurrent herp... |
ORPHA:572 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent mycobacterial infections, Recurrent... |
ORPHA:911 |
| Autoimmune Hepatitis |
|
Fulminant hepatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangi... |
ORPHA:2137 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
| Thymic Aplasia |
|
Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, Pneumonia, Sepsi... |
ORPHA:83471 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Myoclonus, Atonic seizure, Focal impaired awareness seizure, Infantile... |
ORPHA:411986 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... |
OMIM:619854 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Extrapulmonary tuberculosis, Nephrotic syndrome, Membranoproliferative... |
OMIM:619644 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Seizure, Myoclonus, Focal tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... |
ORPHA:485350 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis |
OMIM:613494 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia |
OMIM:615561 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthritis, Ecz... |
OMIM:304790 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Renal insufficiency, Anti-thyroid peroxidase antibody positivity, Rheumatoid arth... |
ORPHA:49041 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... |
ORPHA:37042 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, R... |
ORPHA:183675 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... |
ORPHA:331235 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Bronchiectasis, Allergic rhinitis, Rec... |
OMIM:615816 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus |
ORPHA:86814 |
| Immunodeficiency 61 |
|
Arthritis, Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Rec... |
OMIM:300310 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity |
ORPHA:169079 |
| Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Recurrent sinusitis, Recurrent otitis media, Recurrent bacterial infections, Recu... |
OMIM:613493 |
| Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections, Perianal abscess |
OMIM:619437 |
| Myoclonic-Astatic Epilepsy |
|
Focal-onset seizure, Generalized myoclonic seizure, Generalized myoclonic-atonic seizure, Simple ... |
ORPHA:1942 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori infection, Rec... |
ORPHA:2688 |
| Pgm3-Cdg |
|
Bronchiectasis, Eczema, Recurrent skin infections, Recurrent viral infections, Atopic dermatitis,... |
ORPHA:443811 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Osteomyelitis, Recurrent mycobacter... |
OMIM:615978 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Multifocal seiz... |
OMIM:618170 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent b... |
OMIM:607594 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... |
OMIM:605258 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent lower respiratory tract infection... |
OMIM:613501 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatit... |
OMIM:209920 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Anti-thyroid peroxidase antibody positivity, Skin rash, Anti-beta-2-Glycoprotein I IgG antibody p... |
OMIM:618048 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
| Thymoma |
|
Anti-acetylcholine receptor antibody positivity, Rheumatoid arthritis, Autoimmunity, Ulcerative c... |
ORPHA:99867 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent fungal infections, Recurrent mycobacterial infections, Autoimmunity, Recurrent bacteria... |
ORPHA:169090 |
| Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
| Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
| Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
| Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Fasciitis, Myositis, Glomerulonephritis, Meningitis, Recurrent skin infections,... |
ORPHA:36234 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, G... |
OMIM:617600 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Epididymitis |
OMIM:608106 |
| Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Chronic sinusitis, Recurrent otitis media |
OMIM:613502 |
| Tubulinopathy-Associated Dysgyria |
|
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure |
ORPHA:467166 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Eating-induced seizure, Generalized-onset seizure, Myoclonic absence seizure |
ORPHA:544254 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Typical absence seizure, Seizure |
ORPHA:576283 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Recurrent bronchitis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumo... |
OMIM:612692 |
| Lafora Disease |
|
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Seizure, Focal-onset seizure,... |
ORPHA:501 |
| Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure... |
OMIM:617188 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, A... |
ORPHA:1830 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Disseminated molluscum contagiosum, Bronchiectasis, Eosinophilic infiltration of the esophagus, R... |
OMIM:243700 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Recurrent sinop... |
ORPHA:486 |
| Simple Cryoglobulinemia |
|
Nephrotic syndrome, Arthritis, Abnormality of the kidney, Membranoproliferative glomerulonephriti... |
ORPHA:91139 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
| Periventricular Nodular Heterotopia 7 |
|
Infantile spasms, Seizure, Generalized non-motor (absence) seizure |
OMIM:617201 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... |
ORPHA:293964 |
| Hypocomplementemic Urticarial Vasculitis |
|
Conjunctivitis, Glomerulopathy, Skin rash, Inflammatory abnormality of the eye, Arthritis, Autoim... |
ORPHA:36412 |
| Developmental And Epileptic Encephalopathy 110 |
|
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure |
OMIM:620149 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Cortical myoclonus, Typical absence seizure, Seizure, Focal-onset seizure, Myo... |
ORPHA:168491 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Prostatitis, Recurrent ur... |
OMIM:307200 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... |
OMIM:300636 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc... |
OMIM:254780 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Harel-Yoon Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:617183 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on... |
OMIM:618354 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Meningitis, Renal... |
ORPHA:449395 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... |
OMIM:613179 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure |
OMIM:613839 |
| Lissencephaly Due To Lis1 Mutation |
|
Generalized tonic seizure, Seizure, Focal motor seizure, Generalized myoclonic seizure, Atonic se... |
ORPHA:95232 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Hyperprolinemia Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure... |
ORPHA:79101 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Myoclonic seizure, Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic se... |
OMIM:619835 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Systemic Sclerosis |
|
Anti-centromere antibody positivity, Osteomyelitis, Acute kidney injury, Arthritis, Abnormality o... |
ORPHA:90291 |
| Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Bronchiectasis, Autoimmunity, Recurrent bacterial infections, Recurrent u... |
OMIM:616005 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
| Autoimmune Lymphoproliferative Syndrome |
|
Recurrent aphthous stomatitis, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, A... |
ORPHA:3261 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration |
OMIM:617872 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... |
ORPHA:98795 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections |
OMIM:609536 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Recurrent opportunist... |
ORPHA:276 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Recurrent staphylococcal infections,... |
ORPHA:2968 |
| Lymphatic Filariasis |
|
Lymphadenitis, Opportunistic infection, Nephrotic syndrome, Abnormality of the kidney, Opportunis... |
ORPHA:2035 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Skin rash, Cutaneous abscess, Chronic mucocutaneous c... |
OMIM:147060 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Skin rash, Autoimmunity, Recurrent upper and lower respiratory tract infections, A... |
ORPHA:331206 |
| Kohlschutter-Tonz Syndrome-Like |
|
Generalized clonic seizure, Generalized tonic seizure, Seizure, Lateral ventricle dilatation, Foc... |
OMIM:619229 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:301091 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tonic seizure, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
OMIM:300260 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Seizure, Generalized non-motor (absence) seizure |
OMIM:612337 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Oro... |
ORPHA:470 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morpholo... |
OMIM:137940 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Chronic oral candidiasis, Thyroiditis, Eczema, Recurrent viral... |
OMIM:606367 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:615398 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233710 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Focal emotional seizure with laughing, Generalized myoclonic seizure, Bilateral tonic-clonic seiz... |
ORPHA:79351 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria |
ORPHA:251004 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidiasis, Autoimmune th... |
OMIM:102700 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Seizure, Generalized non-motor (absence) seizure, Status epilepticus, Epileptic spasm, Agenesis o... |
ORPHA:96147 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized ton... |
OMIM:616973 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Generalized myoclonic seizure, Status epilepticus, Tonic seizure, Bilateral tonic-clonic seizure,... |
OMIM:300912 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, General... |
ORPHA:457351 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233690 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Sepsis, Recurrent otitis media |
OMIM:617475 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Agenesis of corpus callosum, Seizure, Generalized non-motor (absence) seizure |
OMIM:617360 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anuria, Severe infection, Acute tubulointerstitial nephritis, Acute... |
ORPHA:340 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gene... |
ORPHA:395 |
| 3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
| Cystic Echinococcosis |
|
Renal cyst, Invasive parasitic infection, Unusual infection, Membranous nephropathy |
ORPHA:400 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia |
OMIM:261750 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:363686 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Periodontitis, Recurrent gram-negative bacterial infections, Chronic mucocutaneous... |
OMIM:116920 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Anti-myeloperoxidase antibody positivity, Cytoplasmic antineutroph... |
OMIM:233450 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Aminoaciduria, Proteinuria |
OMIM:603585 |
| Dpm1-Cdg |
|
Generalized tonic seizure, Seizure, Generalized myoclonic seizure, Early onset absence seizures, ... |
ORPHA:79322 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615802 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
| Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Endocarditis, Myocarditis, Osteomyelitis, Hip osteoarthri... |
ORPHA:1304 |
| Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:1934 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
| Developmental And Epileptic Encephalopathy 100 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Typical absence... |
OMIM:619777 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:601495 |
| Angelman Syndrome |
|
Seizure, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Atonic seizure, Infantile ... |
ORPHA:72 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Seborrheic dermatitis |
OMIM:619693 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Focal emotional seizure with laughing, Myoclonus, Focal tonic seizure, Generalized myoclonic seiz... |
ORPHA:404454 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:617798 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Gout, Inflammation of the large intestine, Recurrent bacterial infections, Decre... |
OMIM:232220 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Chronic oral candidiasis, Hepatitis, Sclerosing cholangitis, Stomatitis... |
OMIM:308230 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:601678 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Recurrent skin infections |
OMIM:612840 |
| Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Lateral ventric... |
OMIM:277590 |
| Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections, Bronch... |
ORPHA:60033 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Chronic active hepatitis, Erythema nodosum, Arthritis, Thyroiditis,... |
ORPHA:289390 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections |
OMIM:607676 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Immunodeficiency 21 |
|
Recurrent viral infections, Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium a... |
OMIM:614172 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Colitis, Protei... |
ORPHA:90068 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:306400 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... |
ORPHA:369837 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hypouricemia |
OMIM:616026 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:241200 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent ear infections, Chronic oral candidiasis, Recurrent aspiration pneumonia, Recurrent uri... |
ORPHA:221139 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Patent ductus arteriosus, Perianal abscess, Recurrent urinary tract infections, Urachus fistula, ... |
OMIM:612541 |
| Mirage Syndrome |
|
Patent ductus arteriosus, Aspiration pneumonia, Microphallus, Recurrent urinary tract infections,... |
OMIM:617053 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure |
ORPHA:258 |
| Kinsship Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619297 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:90794 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Erythroderma, Recurrent viral infections, Pneumonia, Recurrent fu... |
OMIM:603554 |
| Tay-Sachs Disease |
|
Myoclonus, Focal impaired awareness seizure, Seizure, Typical absence seizure |
ORPHA:845 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
ORPHA:466943 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Typical absence seizure, Seizure |
OMIM:618343 |
| Whim Syndrome |
|
Lymphadenitis, Bronchiectasis, Severe periodontitis, Recurrent pneumonia, Recurrent bacterial inf... |
ORPHA:51636 |
| Sickle Cell Disease |
|
Recurrent bacterial infections, Renal insufficiency, Hematuria |
OMIM:603903 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
IgA deposition in the glomerulus, Urinary bladder sphincter dysfunction, Renal amyloidosis, Gastr... |
ORPHA:79408 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Eczema, Inflammation of the large intestine, Recurrent bact... |
OMIM:615895 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent fungal infections, Persistent EBV viremia, Atrophic gastritis, Necrotizing enterocoliti... |
OMIM:619573 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hypoglycemia, Hyperbilirubinemia, Neonatal hypoglycemia |
OMIM:613986 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Micropenis |
OMIM:241410 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enterocolitis, Periodontitis, Stage 5 chronic kidney disease, Enlarged kidney, Thyroiditis, Ulcer... |
ORPHA:79259 |
| Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Periodontitis, Recurrent otitis media, Recurrent pneumonia, Recurrent b... |
OMIM:608233 |
| Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Re... |
