| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... |
OMIM:619868 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... |
OMIM:620632 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Decreased ... |
OMIM:613752 |
| Diarrhea 13 |
|
Hypoalbuminemia, Hepatic steatosis |
OMIM:620357 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... |
OMIM:209950 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia |
OMIM:607250 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, ... |
ORPHA:507 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... |
OMIM:226990 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Anemia, Hyperlipidemia |
OMIM:603278 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... |
ORPHA:158061 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia |
OMIM:619013 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly |
OMIM:618805 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Alg6-Cdg |
|
Hypoalbuminemia, Low-set ears, Abnormality of the liver, Decreased LDL cholesterol concentration,... |
ORPHA:79320 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... |
OMIM:603553 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Hearing impairment |
OMIM:618349 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,... |
OMIM:600501 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:246700 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc... |
ORPHA:540 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... |
ORPHA:247598 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Increased serum bile acid concentration, Sensorineural hearing impairment, Cirrh... |
OMIM:242150 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Low-set ears, Hypocholesterolemia, Splenomegaly, Hepatomegaly |
OMIM:608776 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Low-set ears, Cholestasis, Elevated circulating creatinine concentration, Hepato... |
OMIM:608104 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, H... |
ORPHA:90362 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... |
OMIM:617519 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Portal hypertension, Hepatomegaly |
ORPHA:79319 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... |
OMIM:251880 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Lymphangiectasis, Hepatomegaly |
OMIM:602579 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... |
ORPHA:2070 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepat... |
ORPHA:247585 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hep... |
OMIM:226300 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Avian Influenza |
|
Hypoalbuminemia, Hepatitis, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concent... |
ORPHA:454836 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... |
ORPHA:247353 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Hepatomegaly |
ORPHA:367 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Sensorineural hearing impairment |
OMIM:615244 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Ma... |
OMIM:613070 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Abnormality... |
ORPHA:88618 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-... |
ORPHA:86816 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Exocrine pancreatic insufficiency, Abnormality of the liver, Hyperbilirubinemia,... |
ORPHA:1667 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hepatic steatosis, Hyperammonemia, S... |
OMIM:617093 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macro... |
ORPHA:292 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Reni Syndrome |
|
Hypoalbuminemia, Lymphopenia, Sensorineural hearing impairment, Hypertriglyceridemia |
OMIM:617575 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... |
OMIM:619313 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Leukopenia, Splenomegaly, Hepatomega... |
OMIM:617303 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Peritonitis |
ORPHA:656 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce... |
ORPHA:186 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Optic atrophy, Hepatosplenomegaly, Portal ... |
OMIM:619487 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ... |
OMIM:222470 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hepatitis, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased ... |
ORPHA:37042 |
| Al Amyloidosis |
|
Hypoalbuminemia, Howell-Jolly bodies, Postural hypotension with compensatory tachycardia, Abnorma... |
ORPHA:85443 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Low-set ears, Conductive hearing impairment, Intestinal lymphangiectasia, Sensor... |
OMIM:235510 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Optic atrophy, Sensorineural hearing impairment, Hyperalaninemia, Macrovesicular... |
OMIM:618329 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Cholestasis, Hyperbilirubinemia, Microvesicular hepatic stea... |
OMIM:617156 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... |
ORPHA:3240 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Portal fibrosis, Decreased nerve conduction velocity, Hemolytic an... |
OMIM:277900 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated... |
ORPHA:36234 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Anemia, Leukocytosis, Liver abscess |
ORPHA:67 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Po... |
ORPHA:171 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating... |
ORPHA:14 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Hepatic steatosis, Thrombocytosis, Hepato... |
OMIM:212065 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Hypoplastic spleen |
ORPHA:89844 |
| Alg12-Cdg |
|
Hypoalbuminemia, Hypocholesterolemia, Sensorineural hearing impairment, Hyponatremia, Thrombocyto... |
ORPHA:79324 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Hepatosplenomegaly, Leukopenia, Thro... |
ORPHA:505248 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Low-set ears, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid concentration... |
ORPHA:2298 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Optic atrophy, Hearing impairment |
OMIM:610965 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Recurrent otitis media, Decreased ... |
OMIM:619381 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... |
ORPHA:90363 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Cholestasis, Slender build, Pancytopenia, Portal hypertension, Hypocalcemia, Hep... |
OMIM:613658 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... |
ORPHA:99826 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Low-set ears |
OMIM:617729 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Low-set ears, Optic atrophy, Macrotia |
OMIM:251300 |
| Kawasaki Disease |
|
Hypoalbuminemia, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis... |
ORPHA:2331 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... |
ORPHA:79330 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Cholestatic liver disease, Low-set ears, Hearing impairment, Recurrent otitis me... |
OMIM:270400 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Low-set ears, Anemia, Refractory anemia |
ORPHA:79076 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen |
OMIM:617053 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... |
OMIM:609136 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Anemia, Absent bra... |
ORPHA:90321 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Hearing impairment, Hypomagnesemia, Exocrine pancreatic insufficienc... |
ORPHA:699 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Hearing impairment, Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, C... |
OMIM:619534 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... |
OMIM:216400 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti... |
ORPHA:909 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... |
ORPHA:101085 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... |
OMIM:133540 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... |
ORPHA:171929 |
| Microphthalmia, Syndromic 9 |
|
Low-set ears, Multilobulated spleen, Hypoplastic spleen |
OMIM:601186 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Hepatomegaly, Eosinophilia, Splenomegaly |
ORPHA:75565 |
| Mend Syndrome |
|
Low-set ears, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal auditory evoked ... |
ORPHA:401973 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Macrotia |
OMIM:614748 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Reduced thyroxin-binding globulin, Impaired neutrophil chemota... |
ORPHA:79318 |
