| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia... |
OMIM:613752 |
| Diarrhea 13 |
|
Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb... |
ORPHA:158061 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
| Alg6-Cdg |
|
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Low... |
ORPHA:79320 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Hearing impairment |
OMIM:618349 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, J... |
OMIM:603553 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Sensorineural hearing impairment, Splenomeg... |
ORPHA:540 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, EEG abnormality, Increased ... |
OMIM:617021 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... |
OMIM:242150 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension |
ORPHA:79319 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... |
OMIM:608104 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypo... |
ORPHA:90362 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Lymphangiectasis |
OMIM:602579 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypopro... |
ORPHA:86816 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Cirrhosis |
ORPHA:367 |
| Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... |
OMIM:613070 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... |
ORPHA:1667 |
| Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Sensorineural hearing impairment, Jaundi... |
OMIM:617093 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Cholestasis, Hyperammo... |
ORPHA:292 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Reni Syndrome |
|
Sensorineural hearing impairment, Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Hypoalbuminemia, Macrove... |
OMIM:617303 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary ci... |
ORPHA:186 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Optic atrophy, Hepatospl... |
OMIM:619487 |
| Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Sensorineural hearing impairment, Optic atrophy, Hypoalbuminemia, Bile duct proliferation, Macrov... |
OMIM:618329 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice... |
OMIM:222470 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Sensorineural hearing impairment, Pulmona... |
OMIM:235510 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ... |
ORPHA:85443 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Hepatitis... |
ORPHA:37042 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... |
OMIM:617156 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... |
ORPHA:36234 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased... |
ORPHA:14 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Liver abscess, Hypoalbuminemia, Anemia |
ORPHA:67 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Macrotia, H... |
OMIM:212065 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Low-set ears |
ORPHA:89844 |
| Alg12-Cdg |
|
Hyponatremia, Abnormal pinna morphology, Sensorineural hearing impairment, B lymphocytopenia, Hyp... |
ORPHA:79324 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellulari... |
ORPHA:505248 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Decreased serum zinc, Hypoalbu... |
ORPHA:89842 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Biliary ... |
ORPHA:2298 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia |
OMIM:618183 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Hearing impairment |
OMIM:610965 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrh... |
ORPHA:90363 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Jaundice, N... |
ORPHA:99826 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Slender build, Portal hypertension, Cholestasis, Bile duct proliferation, Hypocalce... |
OMIM:613658 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Galloway-Mowat Syndrome 1 |
|
Macrotia, Optic atrophy, Hypoalbuminemia, Low-set ears |
OMIM:251300 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Low-set ears |
OMIM:617729 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Posteriorly rotated ears, Aganglionic megacolon, Splenomegaly, Cholestatic liver di... |
OMIM:270400 |
| Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Hypoalbuminemia, Low-set ears |
ORPHA:79076 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Optic atrophy, Anemia, Increased blood urea ni... |
ORPHA:90321 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, Sensorineural hearing impairment, Optic atroph... |
ORPHA:79330 |
| Pearson Syndrome |
|
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Exocrine pancreatic insufficien... |
ORPHA:699 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Protruding ear, Hepatic fibrosis, Hypoalbuminemia, Intrahepatic bi... |
OMIM:619534 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Cockayne Syndrome A |
|
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:216400 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Cockayne Syndrome B |
|
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Low-set ears |
OMIM:601186 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... |
ORPHA:401973 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
| Pmm2-Cdg |
|
Abnormal pinna morphology, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morpholog... |
ORPHA:79318 |
