Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Gilles De La Tourette Syndrome |
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Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... |
OMIM:267700 |
Citrullinemia Type Ii |
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Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hepatic fibrosis, Hypoalbu... |
ORPHA:247585 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... |
OMIM:603553 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Small for gestat... |
ORPHA:26793 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Glycogen Storage Disease Ii |
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Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Histiocytoid Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Su... |
ORPHA:137675 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Chédiak-Higashi Syndrome |
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Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Thyrotoxic Periodic Paralysis |
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Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Short... |
ORPHA:79102 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... |
ORPHA:308552 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Tremo... |
OMIM:614947 |
Refractory Celiac Disease |
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Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... |
ORPHA:398063 |
Dengue Fever |
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Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, E... |
ORPHA:365 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cyanosis, Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Conges... |
OMIM:261740 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Episodic Ataxia, Type 1 |
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Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Preeclampsia |
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Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated cir... |
ORPHA:275555 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Abno... |
ORPHA:263455 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Hypogl... |
ORPHA:324575 |
Wolff-Parkinson-White Syndrome |
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Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ... |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Ij |
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Elevated hepatic transaminase, Aggressive behavior, Tremor, Jaundice, Flexion contracture, Hypsar... |
OMIM:608093 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemi... |
ORPHA:2494 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... |
OMIM:620270 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Sandhoff Disease, Adult Form |
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Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... |
ORPHA:309169 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Increased C-peptide leve... |
ORPHA:276580 |
Gaisböck Syndrome |
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Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple... |
ORPHA:90041 |
Cog4-Cdg |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan... |
ORPHA:263501 |
Progressive Familial Heart Block, Type Ib |
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Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Increased C-peptide ... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Tachycardia, Large for gestational age, Increased C-peptide level, Hyperinsulinemia... |
ORPHA:276575 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Hepatomegaly, Pancytopenia, Hypoglycemia, Congenital sensorineural hearing impairment, Elevated c... |
OMIM:617872 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Aggressive Systemic Mastocytosis |
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Anorexia, Neutropenia, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosplenomegaly, Lymph... |
ORPHA:98850 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, R... |
ORPHA:363400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,... |
OMIM:620066 |
Congenital Analbuminemia |
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Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Primary Intestinal Lymphangiectasia |
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Hypoproteinemia, Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Ascites,... |
ORPHA:90362 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... |
ORPHA:232 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
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Abnormal EKG, Somatic sensory dysfunction, Lower limb spasticity, Diabetes mellitus, Optic atroph... |
ORPHA:1177 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... |
OMIM:615924 |
Hemophagocytic Syndrome Associated With An Infection |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenome... |
ORPHA:158048 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Lower limb spasticity, Focal EEG discharges with... |
ORPHA:3077 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... |
ORPHA:276435 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Microcyt... |
OMIM:618805 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Agitation, P... |
ORPHA:276608 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... |
OMIM:619991 |
Johanson-Blizzard Syndrome |
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Diabetes mellitus, Abnormality of the pancreas, Sensorineural hearing impairment, Failure to thri... |
ORPHA:2315 |
Multifocal Atrial Tachycardia |
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Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Tetraplegia, Hypertonia, Microphthalmia, Failure to thrive, Letharg... |
OMIM:274270 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Neutropenia, Hyperammonemi... |
ORPHA:79312 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
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Increased spinal bone density, Spastic paraplegia, Babinski sign, Elevated circulating alkaline p... |
ORPHA:329475 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis,... |
ORPHA:1655 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Stillbirth, Neonatal hypoproteinemia |
OMIM:152800 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, EEG abnormality... |
OMIM:612126 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... |
OMIM:235255 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Irritability, Elevated circula... |
OMIM:613489 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... |
ORPHA:48818 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Failure to thri... |
ORPHA:858 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... |
ORPHA:91547 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... |
ORPHA:206443 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia |
OMIM:256300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Normocytic anemia, Nodular regenerative hy... |
ORPHA:247691 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Cardiac arrest, Tremor, Low-set ears, Failure to thrive |
OMIM:618951 |
Immunodeficiency 43 |
|
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... |
OMIM:241600 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... |
ORPHA:599373 |
Ravine Syndrome |
|
Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure... |
ORPHA:99852 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Facial palsy, Craniosynostosis, Throm... |
OMIM:259700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, High-frequency sensorineural hearing impairment, Abnormal circulating enzyme conce... |
ORPHA:2590 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Incoordination, Ataxia, Clonu... |
ORPHA:480864 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Abnormal pyramidal sign, Dysmetria, ... |
ORPHA:48431 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... |
ORPHA:90117 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Abnormal lactate dehydrogenase level, Microangiopathic he... |
ORPHA:54057 |
Classic Galactosemia |
|
Reduced bone mineral density, Lethargy, Hepatomegaly, Ataxia, Osteoporosis, Depression, Clumsines... |
ORPHA:79239 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro... |
OMIM:608836 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating aspartate aminot... |
OMIM:619658 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of a... |
OMIM:615010 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating asp... |
ORPHA:2088 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tachycardia, Tremor, Retrobulbar optic neuritis,... |
OMIM:619737 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, EEG abnormality, Elevate... |
ORPHA:529665 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Inguinal hernia, Elevated circulating creatine kinase concentration,... |
OMIM:616809 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Cranial nerve compression, Hepa... |
ORPHA:210110 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast... |
ORPHA:264580 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Hypergly... |
ORPHA:134 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Ascites, Hypoal... |
OMIM:608104 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Sensorineural hearing impairme... |
OMIM:619046 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr... |
ORPHA:85443 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Extremely elevated creatine kinase, A... |
OMIM:615673 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Elevated circulating creatine kinase concentration, Congestive heart failure, Cran... |
ORPHA:52430 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... |
ORPHA:465508 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... |
OMIM:122860 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Tremor, Hepatomegaly, Ataxia, Scarring, Gait d... |
ORPHA:90321 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculat... |
OMIM:604484 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated... |
ORPHA:228346 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration, EEG with focal spikes, Ataxia |
OMIM:616917 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... |
ORPHA:45452 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Lethargy, Intrahepatic b... |
OMIM:614866 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Tremor, Microphthalmia, Spasticity |
OMIM:278780 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Hypocalce... |
ORPHA:94093 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal sensory impairme... |
OMIM:616719 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Letharg... |
ORPHA:71212 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia, Large for gestational age |
ORPHA:2432 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Thromboc... |
ORPHA:905 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Failure ... |
OMIM:615198 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Anorexia, Low alkaline phosphatas... |
OMIM:241500 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Emotional lability, Irritab... |
OMIM:201100 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Sensorineural hearing impairment... |
ORPHA:290 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g... |
ORPHA:53035 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Optic atrophy, Babinski s... |
OMIM:609260 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy... |
OMIM:616733 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... |
ORPHA:231226 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... |
ORPHA:99027 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Diabetes mellitus, Ataxia, Telangiectasia of the skin... |
ORPHA:100 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Optic atrophy, Spastic... |
OMIM:617710 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Retinal dystrophy, Inability to w... |
OMIM:616756 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
Mehmo Syndrome |
|
Small for gestational age, Hypoglycemia, Spastic tetraparesis, Aggressive behavior, Inability to ... |
OMIM:300148 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Hypertension, Pro... |
ORPHA:97229 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukopenia, Recurrent hypoglycemia, Lethargy, Hepatomegaly, Ataxia, Spastic hemiparesis... |
ORPHA:20 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II ... |
OMIM:520000 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati... |
OMIM:620366 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthal... |
OMIM:615085 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Prominent antitragus, Ataxia, Low alkaline phosphatase |
OMIM:618879 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, U... |
ORPHA:87876 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, ... |
OMIM:229300 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Inability to... |
OMIM:613155 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Hepatomegaly, Ataxia, Optic atrophy, Dysm... |
ORPHA:93400 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Jaundice, Schistocytos... |
OMIM:274150 |
Hypophosphatasia, Childhood |
|
Waddling gait, Elevated plasma pyrophosphate, Low alkaline phosphatase, Craniosynostosis |
OMIM:241510 |
Leptospirosis |
|
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Anorexia, Jaundice,... |
ORPHA:509 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... |
ORPHA:99826 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Hypoxemia, Pulm... |
ORPHA:90060 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dy... |
OMIM:261630 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... |
OMIM:616515 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... |
OMIM:610198 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Pigmen... |
OMIM:614307 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Aminoaciduria, Elevated ga... |
OMIM:124000 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, St... |
OMIM:235555 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... |
OMIM:164500 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Atrial fibrillation, Craniosynostosis... |
ORPHA:525731 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... |
OMIM:618093 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoporosis, Obesity, Depression, Hypertension, Hyperostosis frontalis intern... |
ORPHA:77296 |
Gitelman Syndrome |
|
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... |
ORPHA:358 |
Camurati-Engelmann Disease, Type 2 |
|
Waddling gait, Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Disproportion... |
OMIM:606631 |
Multiple Myeloma |
|
Osteopenia, Tall stature, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentrat... |
ORPHA:29073 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Impaired distal vibration sensation, Impaired vibration sensation ... |
OMIM:604360 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Abnormal circulating enzyme concentration or activity, Ataxia, Tremor... |
ORPHA:79263 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Abnormal urinary acylglycine profile, G... |
ORPHA:391417 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Elevate... |
ORPHA:330001 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... |
OMIM:213600 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... |
OMIM:619470 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... |
ORPHA:230 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Parkinsonism, Ob... |
OMIM:300055 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, S... |
ORPHA:621 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Developmental And Epileptic Encephalopathy 1 |
|
Spastic tetraparesis, EEG with burst suppression, Abnormal pyramidal sign, Dysphagia, Hypsarrhyth... |
OMIM:308350 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotensi... |
ORPHA:391673 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, B... |
OMIM:613280 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, Progressive cer... |
ORPHA:254881 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased cir... |
ORPHA:85450 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Sensorineural hearing impairment, Hypertension, Hypertonia, Gait disturbance, Type I diab... |
ORPHA:1192 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Small for gestational age, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Dysphag... |
OMIM:261640 |
C3 Glomerulopathy |
|
Lipodystrophy, Drusen, Elevated circulating creatinine concentration, Hypertension, Yellow/white ... |
ORPHA:329918 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulati... |
OMIM:227810 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... |
OMIM:128235 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... |
ORPHA:2056 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Lower limb spasticity, Ataxia, Repetitive c... |
ORPHA:66634 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Tachycardia, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaun... |
ORPHA:39812 |
Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ... |
ORPHA:3095 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... |
ORPHA:96 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Ataxia, Heart block, Splenomegaly, Sensorineural hearing imp... |
ORPHA:773 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated alkaline phosphatase of bone origin, Facial palsy, Elevated circulating creatine kinase ... |
OMIM:167320 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large... |
OMIM:616026 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... |
ORPHA:400 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Overweight, Tremor, Cranial hyperostosis, Depression, Hyperkinetic movemen... |
ORPHA:457240 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Self hugging, I... |
OMIM:182290 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici... |
OMIM:616881 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Biliary tract abnormality, Obesity, Type II d... |
ORPHA:3191 |
Nathalie Syndrome |
|
Abnormal EKG, Hearing impairment |
OMIM:255990 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom... |
OMIM:277900 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... |
ORPHA:227510 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Pure red cel... |
OMIM:613179 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Absent P wave, First degree atrioventricular block, Sudden cardiac death, Elevated... |
OMIM:310300 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hear... |
OMIM:222300 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Hepatomegaly,... |
OMIM:613327 |
Gm1 Gangliosidosis |
|
Tremor, Decreased beta-galactosidase activity, Decerebrate rigidity, Cherry red spot of the macul... |
ORPHA:354 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Po... |
ORPHA:2089 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... |
ORPHA:99745 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Hearing ... |
ORPHA:208441 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Retinal thinning, Optic disc pallor, Hyperglycemia, Ataxia |
OMIM:618970 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sp... |
OMIM:615157 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... |
ORPHA:254892 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Impaired distal proprioception, Cardiomegaly... |
ORPHA:14 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... |
ORPHA:2388 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... |
ORPHA:206436 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Clonus, Spastic tetraparesis, Sensorineur... |
ORPHA:423479 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... |
OMIM:245480 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Right hemiplegia, Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:607426 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation... |
ORPHA:2929 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... |
OMIM:617916 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Congestive heart failure, Leukocytosi... |
ORPHA:67 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment |
OMIM:614896 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... |
ORPHA:1942 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Malformation of the hepa... |
ORPHA:84081 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Ap... |
OMIM:617810 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microcytic anemia, Optic atrophy, Low-set ears, Dysphagia, Microph... |
OMIM:612379 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Babinski sign, Dysmetr... |
OMIM:210000 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa... |
OMIM:235200 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c... |
OMIM:239100 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di... |
OMIM:208920 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Hepat... |
ORPHA:1329 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Carnosinuria, Cardiomyopathy |
OMIM:309930 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Sensorineural hearing impairment, O... |
ORPHA:1466 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr... |
ORPHA:542323 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp... |
ORPHA:466677 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Tachycardia, Diabetes mellitus, Rigidity, Opisthotonus, Depression,... |
OMIM:184850 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Myoca... |
ORPHA:36234 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Failure to thrive, Pericarditis, Ataxia, Elevated hepatic transaminase,... |
OMIM:212065 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Sensorineural hearing ... |
ORPHA:98907 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... |
ORPHA:66624 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Achilles tendon c... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... |
OMIM:601455 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increased body weight, Depres... |
OMIM:615830 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Failure ... |
OMIM:610377 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98853 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Osteoporosis, Depression, Gait disturb... |
ORPHA:909 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Cockayne Syndrome B |
|
Tremor, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Loss of facial adip... |
OMIM:133540 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged ... |
OMIM:209950 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre... |
OMIM:174050 |
Familial Expansile Osteolysis |
|
Osteolysis, Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria, Conductiv... |
OMIM:174810 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Acute Interstitial Pneumonia |
|
Cyanosis, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine ... |
ORPHA:79126 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... |
OMIM:606159 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Optic atrophy, Osteoporosis, Spastic diplegia, Low-set ears, Microphthalmia, M... |
OMIM:600118 |
Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Internal hemorrhage, Leukocytosis, Elevated circulating creatinine conce... |
ORPHA:340 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att... |
ORPHA:369873 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal EKG, Hepatomegaly, Abnorm... |
ORPHA:3385 |
Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, ... |
ORPHA:94125 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Reduced beta-hexosam... |
OMIM:268800 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Retinal dystrophy, Tremor, Sensorineural hearing impairment, Unsteady gait, Elevated circ... |
OMIM:614867 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating enzyme concentration or activity, Ankle flexion ... |
ORPHA:100924 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... |
ORPHA:398124 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Abnormal dental enamel morphology, Craniosynostosis, Hypercalcemia, Obesity, ... |
ORPHA:251004 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98863 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, ... |
ORPHA:90038 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritability, Sparse bone tr... |
OMIM:264700 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98855 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Macular scar, Sensorineural hearing impairment, Hydro... |
OMIM:239000 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H... |
OMIM:617435 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Increased body weight, Depression, Hypertension, Abdominal obesity, Increased circu... |
OMIM:615954 |
Rett Syndrome |
|
Cachexia, Gait apraxia, Truncal ataxia, Bruxism, Gait ataxia, EEG abnormality, Dystonia, Abnormal... |
OMIM:312750 |
Saccharopinuria |
|
Citrullinuria, Tremor, Spastic diplegia, Hypercystinemia, Distal sensory impairment, Gait ataxia,... |
ORPHA:3124 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm... |
OMIM:619473 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Rod... |
OMIM:615986 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... |
OMIM:615688 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... |
ORPHA:890 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,... |
ORPHA:3008 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy |
OMIM:616171 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Increased body weight, Hand tremor, Gait disturbance, Attention deficit hyperactivit... |
ORPHA:589905 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabeculae, Elevated circulat... |
OMIM:277440 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic mo... |
OMIM:233910 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... |
ORPHA:268 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p... |
ORPHA:179494 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Small for gestational age, ... |
ORPHA:330015 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autono... |
ORPHA:329284 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Ab... |
ORPHA:2131 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
Dpagt1-Cdg |
|
Tremor, Flexion contracture, Intracranial hemorrhage, Hypertonia, Diffuse optic disc pallor, Hepa... |
ORPHA:86309 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Reduced C-peptide level, Flexion contracture, Hypsarrhythmia, Type I diabetes mellitus, Hyperglyc... |
OMIM:618856 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Hepatomegaly, Increased bone mine... |
OMIM:259720 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Elevated circulating creatine kinase concentration, Impaired pain sensation, B... |
ORPHA:314389 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Cockayne Syndrome A |
|
Tremor, Ivory epiphyses of the phalanges of the hand, Loss of facial adipose tissue, Hepatomegaly... |
OMIM:216400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... |
ORPHA:240085 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Neonatal hypoglycemia, Aggressive ... |
ORPHA:572798 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Splenomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairme... |
ORPHA:812 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis, Hearing impairment |
OMIM:606263 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Tremor, Congestive hea... |
OMIM:615512 |
Cataract 11, Multiple Types |
|
Microphthalmia, Chorea, Hypertonia |
OMIM:610623 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... |
ORPHA:3202 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Inability to walk, Large earlobe, Elevated circulating alkaline phosphatas... |
OMIM:615716 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Hypercholesterolemi... |
ORPHA:69663 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... |
OMIM:600081 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Somatic sensory dysfunction, At... |
ORPHA:206448 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita, Low-set ears |
OMIM:616570 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, W... |
ORPHA:2070 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Optic atrophy, Impaired vi... |
ORPHA:137898 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials... |
OMIM:619260 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Ataxia, Retinal dysplasia |
OMIM:615771 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Obesity, Dysm... |
ORPHA:93952 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Small for gestational age, Camptodactyly of finger, Microphtha... |
ORPHA:1617 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Inabi... |
OMIM:312080 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... |
OMIM:310200 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair... |
ORPHA:3226 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... |
ORPHA:282166 |
Pierpont Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Uplifted earlobe, Abnormal subcutaneous fat ... |
ORPHA:487825 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Failure ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Failure ... |
ORPHA:71526 |
Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Retinal detachment, Osteopenia, Osteoporosis, Abnormal vitreous humor morphology, ... |
ORPHA:2788 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Large fleshy ears, Hypertonia, Decreased body weight, Microphthalmia, F... |
OMIM:602342 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypoglycemia, Tremor, Congestive heart failure, Flexion contracture, Neutropenia... |
OMIM:616271 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Reduced bone mineral density, Hypotriglyceridemia, Hepa... |
ORPHA:404454 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib... |
ORPHA:171 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p... |
ORPHA:66628 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Poor fine motor coordination, Sick sinus syndrome, Bra... |
ORPHA:542306 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Posteriorly rotated ears, Car... |
OMIM:618143 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congest... |
ORPHA:94080 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612926 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Lymp... |
ORPHA:98849 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Cerebral palsy, Ataxia, Lower limb spasticity, EEG with generalized ... |
ORPHA:163681 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Maternal diabetes,... |
ORPHA:860 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Elevated circulating alkaline phosphatase concentration, Elevated circulating... |
OMIM:615424 |
Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, Ischemic stroke, Impaire... |
OMIM:182410 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight, Anemia |
OMIM:614450 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... |
OMIM:241530 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Antalgic gait, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous dysplasi... |
ORPHA:249 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... |
ORPHA:69665 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnor... |
OMIM:616267 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612925 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Macrotia, Spasti... |
OMIM:617864 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Hemiparesis, Leuko... |
ORPHA:974 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears,... |
OMIM:618718 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... |
OMIM:248370 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Sensorineural hearing impairment, Flexion contracture, Osteoporosis, E... |
OMIM:214150 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612924 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Bulimia, Optic atrophy, Obesity, Mitral regurgitation, Pulmonar... |
OMIM:614651 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Congenital contracture, Hypertonia, Ret... |
ORPHA:191 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Hypochromic anemia |
OMIM:606893 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Splenic rupture, Opisthotonus, Left ventricular hypertrophy, Microphthalmi... |
ORPHA:335 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... |
ORPHA:411515 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Raynaud phe... |
OMIM:613471 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatic steatosis, Hepatomegaly... |
OMIM:608594 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Cherry red spot of the... |
ORPHA:355 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho... |
OMIM:615923 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Protruding ear, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:619534 |
Alexander Disease |
|
Osteopenia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Ataxia, Facial palsy, Sudden cardiac... |
ORPHA:58 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... |
OMIM:120330 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotion... |
ORPHA:542310 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe... |
OMIM:615812 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:36238 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... |
OMIM:620005 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabet... |
OMIM:618857 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Retinal dysplasia, Hernia, N... |
OMIM:617052 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Overgrowth, Hernia, Microphthalmia, Leukemia |
OMIM:602501 |
Hyperlysinemia |
|
Tremor, Dysmetria, Opisthotonus, Cystinuria, Hyperactivity, Clumsiness, Hypoornithinemia, Hyperly... |
ORPHA:2203 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hyp... |
OMIM:208900 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level, Head-banging |
OMIM:619356 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentr... |
ORPHA:89937 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Lens coloboma, Sel... |
OMIM:618914 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... |
OMIM:617101 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Obesity, Telangiectasia, Dystonia, Oculomotor apraxia |
ORPHA:459033 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder |
OMIM:254700 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Hyperinsulinemia, Dysmetria, Supravalv... |
OMIM:620185 |
Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... |
ORPHA:49041 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dysphagia, Dystonia, Lo... |
OMIM:607694 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Progressive spasticity |
ORPHA:2528 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hyperactivity, Craniosynostosis, External ear malformation, Sensorineural h... |
ORPHA:254346 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytopenia, Hepat... |
ORPHA:292 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti... |
OMIM:234200 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Dilated cardiomyopathy, Obesity, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan... |
ORPHA:98908 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Conjugate... |
ORPHA:186 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Elevated hepatic transaminase, Retinal atrophy,... |
OMIM:617406 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Incoordination, Aggressive behavior, Bilat... |
ORPHA:369891 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Insulin resistanc... |
ORPHA:273 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Thrombocytosis, Sclerosis of foot bone, L... |
ORPHA:2905 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Mitral re... |
ORPHA:309155 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Incoordination, Elevated circulating creatinine concentrati... |
OMIM:223900 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Hearing impairment, Cardiomegaly, Tremor, Sensorineural hearing impairment, Amyloid depos... |
OMIM:105210 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anem... |
ORPHA:440713 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp... |
OMIM:619738 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:614817 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529799 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Poor motor coordination,... |
ORPHA:25 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr... |
ORPHA:99829 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Elevated circulating crea... |
OMIM:606002 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficienc... |
OMIM:602088 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... |
OMIM:222100 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Congenital diaphragmatic hernia, Pulmonary arterial ... |
OMIM:300887 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Elevated alkaline phosphatase of bone origin, Hypouricemia, Hypovolemia, Elevated c... |
ORPHA:411634 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... |
ORPHA:98764 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Tremor, Decreased nerve conduction velocity, Depression, Cardiomyopathy, Facial dip... |
ORPHA:329478 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... |
OMIM:260400 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Decreased methylmal... |
OMIM:251100 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly,... |
ORPHA:77293 |
Osteosarcoma |
|
Abnormal lactate dehydrogenase level, Osteolysis, Weight loss, Elevated circulating alkaline phos... |
ORPHA:668 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... |
ORPHA:98794 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ... |
ORPHA:646 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Dysphagia, Opi... |
ORPHA:3299 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Failure to thrive, Ataxia, Anemia |
OMIM:617883 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens... |
OMIM:609136 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hypophosphatemic rickets, Hepatomegaly, Periodic paralysis, Ascites, Anemi... |
OMIM:276700 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Multifocal epileptifo... |
ORPHA:369837 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Elevated circulating creatinine concentration, Attenuation of reti... |
OMIM:614376 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Elevated circulating C-reactive p... |
ORPHA:90051 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Reduced level of N-ac... |
OMIM:224120 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity, Overgrowth, Hepatic steatosis |
OMIM:620195 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic nerve hypoplasia, Clonus, Elevated circulating creatine kinase concentr... |
ORPHA:370959 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi... |
OMIM:617675 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Elevated circulating creatine kinase con... |
OMIM:614298 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Angina pe... |
ORPHA:565612 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ataxia, Portal hypertension, Tremor... |
ORPHA:1454 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... |
OMIM:152950 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Neonatal death, Microphthalmia, Spasticity |
OMIM:613730 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Ataxia, Aganglionic megacolon, Oculomotor apraxia, Cupped ear,... |
ORPHA:247262 |
Moebius Syndrome |
|
Abnormal pinna morphology, Poor coordination, Dysphagia, Clumsiness, Facial diplegia, Dysdiadocho... |
OMIM:157900 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:617885 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
D-Glyceric Aciduria |
|
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... |
ORPHA:941 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased body weight, Epiphyseal stippling, Type I... |
OMIM:274300 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Telangiectasia of the skin, Eosinophilia, ... |
ORPHA:464 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Aganglionic megacolon, Abnormally large globe, Sensorineural hearing im... |
OMIM:239300 |
Temtamy Syndrome |
|
Aortic regurgitation, Self-mutilation, Hypertonia, Low-set ears, Chorioretinal coloboma, Micropht... |
OMIM:218340 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebe... |
ORPHA:502423 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Megaloblastic ... |
OMIM:277400 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Impaired myocardial contractility, Respiratory paralysis, Postpr... |
ORPHA:681 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,... |
ORPHA:713 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Lissencephaly 8 |
|
Appendicular spasticity, Microphthalmia, Optic atrophy, Elevated circulating creatine kinase conc... |
OMIM:617255 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration, Umbilical hernia, Inguinal hernia, Hypsa... |
OMIM:616025 |
Joubert Syndrome 32 |
|
Ataxia, Large for gestational age, Oculomotor apraxia, Hypertrophic cardiomyopathy, Tall stature |
OMIM:617757 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bones... |
ORPHA:73 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Adult onset sensorineural hearing impairment, Conductive hearing impairment,... |
ORPHA:90324 |
Ddost-Cdg |
|
Osteopenia, Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Failure to th... |
ORPHA:300536 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:1501 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Bradykinesia, Gait... |
OMIM:137440 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... |
OMIM:600785 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Hypo... |
ORPHA:178509 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Violent behavior, Broad-based gait, Inguinal hernia, Hepatomegaly, Elevated circulating aspartate... |
OMIM:280000 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Optic atrophy, Osteoporosis... |
OMIM:612199 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Irritability, Glucose intolerance, Hy... |
OMIM:616539 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Diabetes mellitus, Ataxia, Retinal dystrophy, Hearing im... |
OMIM:209900 |
Joubert Syndrome 14 |
|
Ataxia, Posteriorly rotated ears, Morning glory anomaly, Optic atrophy, Intracranial hemorrhage, ... |
OMIM:614424 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Optic atrophy, Microp... |
ORPHA:1528 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Joubert Syndrome 37 |
|
Hepatomegaly, Posteriorly rotated ears, Obesity, Low-set ears, Oculomotor apraxia, Microphthalmia |
OMIM:619185 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Exocrine pancreatic insufficiency, Steatorrhea, EEG abnormality, Elev... |
OMIM:618268 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Acrocyano... |
ORPHA:51 |
Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Optic disc coloboma, Elevated circula... |
ORPHA:2260 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrh... |
ORPHA:3260 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Depression, Inappropriate be... |
OMIM:168605 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Chorioretinal coloboma, Micr... |
ORPHA:1473 |
Trichothiodystrophy |
|
Osteopenia, Multiple joint contractures, Abnormal pyramidal sign, Gait ataxia, Protruding ear, Ma... |
ORPHA:33364 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Aminoaciduria, Rickets, Glycosuria |
OMIM:615605 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cushing Disease |
|
Lymphopenia, Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Myocardial inf... |
ORPHA:96253 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Elevated systolic blood pressure, Decrea... |
OMIM:300539 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Inguinal hernia, Small for gestational age, Ataxia, Tremor, Hyperammonemia, Hype... |
OMIM:614052 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase ac... |
ORPHA:79255 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Anorexia, Pancreatitis, Jaundice, Elevated circulatin... |
ORPHA:521219 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Abdominal adhesions, Hypertonia, Low-set ears, Neutropenia, Microphthalmia, Ly... |
OMIM:616395 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Progress... |
ORPHA:514 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Retinal detachment, Left ventricular hypertrophy, Elevated circulating creatine k... |
OMIM:613153 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Ataxia, Speech apraxia, Ele... |
OMIM:615356 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Donohue Syndrome |
|
Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyper... |
OMIM:246200 |
Holoprosencephaly |
|
Omphalocele, Hyponatremia, Anophthalmia, Failure to thrive in infancy, Hypoglycemia, Congenital d... |
ORPHA:2162 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Chorioretinal coloboma, Hearing impairment |
OMIM:120433 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Pseudohypoparathyroidism Type 1A |
|
Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetany, Laryngeal dysto... |
ORPHA:79443 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears, Ataxia, Spastic te... |
OMIM:618598 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia, Epistaxis |
ORPHA:90042 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Iron deficiency anemia, Low-se... |
OMIM:618885 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Tetraplegia, Hypsarrhythmia,... |
OMIM:610768 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Weight loss, Glycosuria, Lower... |
ORPHA:99885 |
Tick-Borne Encephalitis |
|
Anorexia, Elevated circulating C-reactive protein concentration, Tremor, Leukopenia, Tongue fasci... |
ORPHA:297 |
Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Posteriorly rotated... |
ORPHA:899 |
Gracile Bone Dysplasia |
|
Failure to thrive, Asplenia, Ascites, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen,... |
OMIM:602361 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Protruding ear, Hypertonia, Tics, Chorioretinal coloboma, Compulsive behaviors, Decreased... |
OMIM:619475 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Paraparesis, Osteolysis, Elevated circulating alkaline phosphatase concentration, ... |
OMIM:602080 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Decre... |
ORPHA:412 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Abscess, Myocarditis, Leukocy... |
ORPHA:810 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma |
OMIM:611638 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... |
ORPHA:231625 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Impa... |
ORPHA:320406 |
Brucellosis |
|
Liver abscess, Anorexia, Elevated circulating C-reactive protein concentration, Chorea, Leukopeni... |
ORPHA:1304 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, EEG abnormality, G... |
ORPHA:411511 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Posteriorly rotated ears, Inability to walk, Hypsarrhythmia, Low-set ear... |
OMIM:618494 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Obesity |
ORPHA:141333 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin conce... |
OMIM:222700 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint c... |
OMIM:175700 |
Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
OMIM:615524 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Microphthalmia, Decreased skull ossification, Low-set ears |
ORPHA:93267 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Retinal pigment epithelial mottling, Elevated urinary aminoisobutyric aci... |
OMIM:614105 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Camptodactyly, Microphthalmia, Spasticity, Macrotia |
OMIM:619694 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat... |
OMIM:615422 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Facial palsy, Clonus, Tremor, Cardio... |
OMIM:619424 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... |
OMIM:620138 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul... |
OMIM:193700 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Elevated cir... |
OMIM:156400 |
Cat-Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Hearing impairment |
ORPHA:195 |
Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia, Chorioretinal coloboma |
OMIM:300915 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdia... |
OMIM:614381 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Elevated circulating alkaline phosphatase c... |
OMIM:134600 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Sensorineural hearing impairment, Knee flexion contracture, Pulmonic stenosis, Attention ... |
ORPHA:435638 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia,... |
OMIM:193100 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... |
ORPHA:79644 |
Short Syndrome |
|
Inguinal hernia, Rieger anomaly, Lipoatrophy, Small for gestational age, Lipodystrophy, Sensorine... |
OMIM:269880 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Sensorineural hearing impairment, Jaundice, Neutropenia, Dysphagia, Hypertonia, B... |
OMIM:617248 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Atax... |
OMIM:619229 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase ... |
OMIM:615181 |
Seckel Syndrome 2 |
|
Microphthalmia, Small for gestational age, Heart murmur |
OMIM:606744 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Inferior chorioretinal coloboma |
OMIM:614497 |
Baraitser-Winter Syndrome 1 |
|
Sensorineural hearing impairment, Overfolded helix, Low-set ears, Chorioretinal coloboma, Microph... |
OMIM:243310 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Elevated circulating alkaline phosphatase concentration |
OMIM:616833 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab... |
ORPHA:401923 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Polycythemia, Opisthotonus, Hypertonia, Methemoglobinemia |
OMIM:250800 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesit... |
ORPHA:2822 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in tendon tissue, Sensorineural hearing impairment, Ectopic ossification in ... |
OMIM:135100 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Flexion contracture, Abnormal pyramidal sign, EEG abnormality, Decreased ... |
OMIM:614833 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Scrub Typhus |
|
Tremor, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension, Lethargy |
ORPHA:83317 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ossification, Rick... |
ORPHA:289157 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment |
OMIM:619981 |
Monosomy 18P |
|
Generalized dystonia, Protruding ear, Hypertension, Abnormal antihelix morphology, Microphthalmia... |
ORPHA:1598 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hypocapnia, He... |
ORPHA:466650 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hypertonia, Agit... |
ORPHA:43116 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Cardiomegaly, Sensorineural hearing impairment, Low-set ears, Microphtha... |
OMIM:618652 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Abnormal pinna morphology, Optic nerve hy... |
OMIM:609069 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... |
ORPHA:94086 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-... |
ORPHA:1438 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Anemia |
OMIM:174000 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Osteoporosis, Abnormal antihelix morphology, ... |
ORPHA:85194 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, EEG with burst suppression,... |
OMIM:615574 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congest... |
ORPHA:276621 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Increased bone mineral density, Transient hypophosphatemia, Small for gestational ag... |
OMIM:127000 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Impulsivity, Impaired temperature sensation, Flexion contracture, Osteoporosis, Incre... |
ORPHA:398069 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Abnormal retinal morphology, Camptodactyly of finger, Posteriorly r... |
OMIM:610758 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Lower limb spasticity, Large for gestational age, Birth length gre... |
OMIM:300868 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Pulmonic stenosis |
OMIM:613312 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Optic atrophy, Self-injurious behavior, Chorioretinal coloboma... |
ORPHA:494344 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, He... |
ORPHA:79474 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment... |
ORPHA:79330 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking, Emotional l... |
ORPHA:3198 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Clonus, Hypoammonemia, Protruding ear, Aminoaciduria, Compulsive behavio... |
ORPHA:534 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ... |
ORPHA:163649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Dystonia, Small for gestational age, Ataxia, Hypoglycemia, Increased hepatocellu... |
OMIM:220111 |
3Q29 Microdeletion Syndrome |
|
Failure to thrive, Aggressive behavior, Depression, Gait disturbance, Low-set ears, Attention def... |
ORPHA:65286 |
Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Delay... |
ORPHA:785 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine |
ORPHA:289601 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Abnormal autonomic n... |
OMIM:300894 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Inability to walk, Flexion contracture, Optic atrophy,... |
OMIM:615663 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... |
OMIM:615453 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Low-set ears, Camptodactyly, Conductive hearing im... |
OMIM:136760 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Obesity |
ORPHA:363741 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of ... |
ORPHA:98791 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Cyanosis, Impaired pain sensation, Aggressive behavi... |
ORPHA:293987 |
Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe, Elevate... |
OMIM:618580 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... |
ORPHA:79139 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Obesity, Depression, Irritabil... |
ORPHA:79444 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Obesity |
OMIM:601794 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Small for gestational age, Optic disc coloboma, Telangiectasia, Choreoathetosis, H... |
OMIM:234100 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, ... |
OMIM:619488 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Po... |
OMIM:614963 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Osteomalacia, Hypocalcemia |
OMIM:179800 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Trisomy 13 |
|
Anophthalmia, Abnormal retinal vascular morphology, Sensorineural hearing impairment, Optic atrop... |
ORPHA:3378 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Obesity, Hypoglycemic seizures, Cholestasis, Hyperbilirubin... |
OMIM:609734 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Abnormal pinna morphology, Scarring alopecia of scalp, Sensorineur... |
ORPHA:35173 |
Sotos Syndrome |
|
Posteriorly rotated ears, Neonatal hypoglycemia, Aggressive behavior, Poor coordination, Increase... |
OMIM:117550 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Ataxia, Hiatus hernia, Macrotia, Optic atrophy, Spastic tetraplegia, H... |
OMIM:251300 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Tremor, Decreased ... |
ORPHA:512 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... |
ORPHA:401973 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Hearing impairment |
OMIM:610023 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Craniosynostosis, Congenital diaphragmatic hernia, Sensorineural hearing impairme... |
ORPHA:261197 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Temtamy Syndrome |
|
Low-set ears, Microphthalmia, Chorioretinal coloboma |
ORPHA:1777 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congest... |
ORPHA:29072 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Joubert Syndrome 8 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Obesity, Pigmentary retinopathy, Hypertonia, Prolonged n... |
OMIM:612291 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Ele... |
OMIM:307800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Abnormality of extrapyramidal motor function, Hype... |
ORPHA:79233 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Head titubation, Rigidity, Gait ataxia, Choreo... |
OMIM:618877 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Insulin resist... |
ORPHA:769 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration, Retinal dystrophy, Anemia |
OMIM:266900 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Subperiosteal bone formation, Elevated circulating alkaline phosphat... |
OMIM:618188 |
Joubert Syndrome 22 |
|
Oculomotor apraxia, Microphthalmia, Retinal dysplasia |
OMIM:615665 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Elevated circulating creatine kinase concentration, Abnormally large globe, Sensorineural hearing... |
OMIM:615249 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Impaired temperature sensation, Osteoporosis, Obesity, Chorioretinal hypopigmentation... |
ORPHA:398079 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials |
OMIM:617523 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase concentration, Gait dis... |
ORPHA:352540 |
Martsolf Syndrome 1 |
|
Inguinal hernia, Posteriorly rotated ears, Cardiac arrest, Clonus, Congestive heart failure, Spas... |
OMIM:212720 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Bone marrow hypocellularity, Neutropenia, Conductive hearing impairment, ... |
OMIM:609053 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Inability to walk, Flexion contracture, Optic atrophy, Spastic tetraplegia... |
OMIM:614222 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Hypercapnia, Elevated circulating creatine ... |
OMIM:164310 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Mixed hearing impairment, Osteoporosis, Elevated circulating alkaline phosphatase con... |
OMIM:126550 |
Hypophosphatasia, Adult |
|
Low alkaline phosphatase, Rickets, Osteomalacia, Chondrocalcinosis |
OMIM:146300 |
Listeriosis |
|
Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Cholecystitis,... |
ORPHA:533 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia, Hypertonia, Syncope, Myoclonus |
OMIM:614618 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microphthalmia |
ORPHA:291 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, EEG abnormality, Low-set ears, Camptodactyly, Angulated antihelix, Mic... |
OMIM:618804 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... |
ORPHA:521426 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Bradykinesia, Blepharospasm,... |
ORPHA:683 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Osteoporosis, Obesity, Hypertension, Abdominal obesity, Glucose intol... |
OMIM:219090 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Paget Disease Of Bone 3 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis, Patchy osteosclerosis, Heari... |
OMIM:167250 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Hypertension, Agitation, Low frustration tolerance, Low-set ears, C... |
OMIM:612469 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Left ventricular hypertrophy, Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... |
ORPHA:449395 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... |
ORPHA:90068 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... |
OMIM:610505 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... |
ORPHA:466768 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Protruding ear... |
ORPHA:3464 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Enlarged kidney, Anophthalmia, Low-set ears |
OMIM:613885 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... |
OMIM:600901 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impairment, Small earlobe, Abnormal de... |
ORPHA:567 |
Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Bilateral microphthalmos, Tongue thrusting |
ORPHA:77299 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Aggressive behavior, Pulmonic... |
OMIM:619148 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Sensor... |
ORPHA:91355 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Protruding ear, Low-set ears, Neonatal death, Micr... |
ORPHA:85284 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Aggressive behavior, Protruding ear, Gait disturbance, Joint contracture of the 5th finger, Low-s... |
OMIM:620098 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Aggressive behavior, Inability to walk, Difficulty walking, Low-set ears, Microp... |
ORPHA:464738 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Craniosynostosis |
ORPHA:2117 |
Woodhouse-Sakati Syndrome |
|
Diabetes mellitus, Sensorineural hearing impairment, Hyperlipidemia, Protruding ear, Choreoatheto... |
OMIM:241080 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Abnormal aut... |
OMIM:168600 |
Adams-Oliver Syndrome 2 |
|
Optic atrophy, Protruding ear, Low-set ears, Microphthalmia, Limb hypertonia |
OMIM:614219 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Flexion contracture... |
ORPHA:847 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... |
ORPHA:730 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Abnormally large globe, Sclerosis of skull base, Elevated circulating alkaline phosph... |
OMIM:269300 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Senso... |
ORPHA:193 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive |
OMIM:618201 |
Focal Dermal Hypoplasia |
|
Omphalocele, Acute hepatic failure, Inguinal hernia, Telangiectasia of the skin, Abnormal dental ... |
ORPHA:2092 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Optic atrophy, Elbow ... |
OMIM:617301 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... |
OMIM:227650 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Xeroderma Pigmentosum, Complementation Group D |
|
Ataxia, Sensorineural hearing impairment, Telangiectasia, Choreoathetosis, Microphthalmia, Spasti... |
OMIM:278730 |
Raine Syndrome |
|
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... |
OMIM:259775 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Inguinal hernia, External ear malformation, Congestive heart f... |
ORPHA:2505 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Flexion contracture, Reticulocytopenia, Anemia, Bone mar... |
OMIM:227645 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Periodic paralysis, Tremor, Weight loss, Hypokalemia |
OMIM:613239 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:617527 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Myocardial infarction, Anorexia, Pancreatoblastoma, Neoplasm of the thymus, Increased body weight... |
ORPHA:99889 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Scarring, Retinal vascular proliferati... |
OMIM:308300 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatate... |
ORPHA:1435 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Abnormal pinna morphology, Hearing impairment |
OMIM:614583 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow... |
OMIM:227646 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Lymphadenopat... |
ORPHA:667 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Bab... |
OMIM:601992 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Posteriorly rotated ears, Congenital sensorineural hearing impair... |
OMIM:617306 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Abnormal auton... |
ORPHA:2828 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Oculodentodigital Dysplasia |
|
Ataxia, Abnormal pinna morphology, Paraparesis, Enamel hypoplasia, Spasticity, Joint contracture ... |
OMIM:164200 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Somatic sensory dysfunction, Tachycardia, Abnormal circulating enzyme... |
ORPHA:79276 |
Dubowitz Syndrome |
|
Inguinal hernia, Hyperactivity, Aplastic anemia, Protruding ear, Acute lymphoblastic leukemia, Hy... |
OMIM:223370 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials |
OMIM:109120 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:619053 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased circulating ... |
ORPHA:157215 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi... |
OMIM:309000 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Microtia, Bone marrow hypocellularity, Conductive hearing impairment, Microph... |
OMIM:603467 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Hypertension, Hypoalbuminemia, Low-set ears, Camptodactyly, Microphthalmia, Spasti... |
OMIM:617729 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids... |
OMIM:619769 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal splee... |
ORPHA:2470 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Thrombocytosis, Pure red cell aplasia, Erythro... |
ORPHA:124 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia |
ORPHA:330021 |
Joubert Syndrome 2 |
|
Ataxia, Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Low-set ears, Oculomotor ... |
OMIM:608091 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spasti... |
OMIM:617281 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Elevated circulating creatine kinase concentration, Cerebral hemorrha... |
OMIM:175780 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Fanconi Anemia, Complementation Group R |
|
Anemia, Microphthalmia, Bone marrow hypocellularity, Radial dysplasia |
OMIM:617244 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Small for gestational age, Camptodactyly of finger, Hearing impairment |
OMIM:610756 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Sensorineural hearing impairment, Babinski sign, Impaired vibration sensation in the lowe... |
ORPHA:447753 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiphyseal s... |
OMIM:302960 |
Dextrocardia |
|
Abnormal EKG, Abnormality of the spleen, Abnormality of abdominal situs, T-wave inversion, Pancre... |
ORPHA:1666 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Bradykinesia, Depression, Clumsiness... |
ORPHA:199351 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Elevated circulating creatinine concentration, Systolic heart murmur, Low-set ears |
OMIM:617478 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression, Hearing impairment |
OMIM:620114 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Dentinogenesis imperfecta, H... |
OMIM:610968 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Elevated circulating alkaline phosphatase concentration, Delayed... |
OMIM:600002 |
Momo Syndrome |
|
Underfolded helix, Large for gestational age, Bilateral microphthalmos, Obesity, Overgrowth, Chor... |
ORPHA:2563 |
Dend Syndrome |
|
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia |
ORPHA:79134 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Aromatase Deficiency |
|
Eunuchoid habitus, Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Insu... |
ORPHA:91 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... |
OMIM:601214 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Inability to walk, Protruding ear, Retinal coloboma, Gait disturbance, Difficulty walking, Low-se... |
OMIM:618571 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked... |
ORPHA:171929 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Granulomatosis, Arteritis, Small vessel vasculitis... |
ORPHA:93126 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Neonatal hypoglycemia, ... |
ORPHA:116 |
Norrie Disease |
|
Clonus, Protruding ear, Hypoplasia of the iris, Hypertonia, Abnormal repetitive mannerisms, Aplas... |
ORPHA:649 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Uplifted earlobe, Low-set ears, Microphthalmia, Pulmonary arterial hypertension,... |
OMIM:616449 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Broad-based gait, Exaggerated startle response, Involuntary moveme... |
ORPHA:438213 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Low-set ears, M... |
OMIM:241410 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, ... |
ORPHA:89936 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ears |
ORPHA:404440 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Optic nerve hypoplasia, Overweight, Delayed proximal femoral epiphyseal ossificatio... |
ORPHA:226307 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Cyanosis, Decreased calvarial ossification, Mitral regurgitation, Hepati... |
OMIM:619879 |
46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Microtia, Elevated circulating creatinine concentration, Increa... |
OMIM:154230 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
ORPHA:1135 |
Jacobsen Syndrome |
|
Flexion contracture, Optic atrophy, Spasticity, Macular hypoplasia, Chorioretinal coloboma, Low-s... |
OMIM:147791 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Pig... |
OMIM:610651 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration, Inability to walk, Sensorineural hearing... |
OMIM:614207 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, Chorioreti... |
OMIM:212550 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Protruding ear, Tela... |
OMIM:601675 |
Alström Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Severe sensorineural hearing impairme... |
ORPHA:64 |
Nance-Horan Syndrome |
|
Microphthalmia, Retinal detachment, Protruding ear |
ORPHA:627 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Reduc... |
OMIM:301040 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Microtia, Camptodactyly of finger |
ORPHA:2547 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, External ear malformation, Red... |
ORPHA:84 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormal dental enamel morphology, Lens coloboma... |
ORPHA:2791 |
3Q29 Microduplication Syndrome |
|
Craniosynostosis, Obesity, Aniridia, Low-set ears, Camptodactyly of toe, Microphthalmia, Hearing ... |
ORPHA:251038 |
Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Lipoatrophy, Sensorineural hearing impairment, Osteoporosis, Hyper... |
OMIM:601812 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Aganglionic ... |
OMIM:614749 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy... |
ORPHA:2556 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Retinal coloboma, Atresia of the external auditory canal, Low-set ears,... |
ORPHA:2328 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co... |
ORPHA:2510 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Macrotia |
OMIM:600776 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Self-injurious behavior |
ORPHA:261272 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Generalized Arterial Calcification Of Infancy |
|
Choroidal neovascularization, Cardiomegaly, Abnormal retinal artery morphology, Abnormal calcific... |
ORPHA:51608 |
Norrie Disease |
|
Retinal detachment, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Hypopla... |
OMIM:310600 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Hemiplegia/hemiparesis, O... |
ORPHA:50 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Delayed pubic bone ossification, Knee flexion contracture, Sclerosis of skull ... |
OMIM:618162 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Lipomas of eyelids, Cupped ear, Low-set ears |
OMIM:167730 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Sensorineural hearing impairment, Flexion contracture of the 2nd toe, Microph... |
ORPHA:2712 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Posteriorly rotated ears, Camptodactyly of 2nd-5th fingers, Low-set ears, Microphth... |
OMIM:206920 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Multiple joint contractures, Optic nerve hy... |
ORPHA:468631 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... |
OMIM:615745 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, External ear malformation, Optic disc... |
ORPHA:568 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Decreased skull ossification, Low-set ears |
OMIM:300863 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Limb hypertonia, Fasciculations, He... |
OMIM:620327 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... |
OMIM:236670 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Microtia, Heart murmur, Hearing impairment |
ORPHA:2728 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Posteriorly rotated ears, Camptodactyly of finger, Low-set ears, Microphthalmia... |
OMIM:616920 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Coronal craniosynostosis, Low-set ears |
ORPHA:228390 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, EEG with spike-wave complexes, Tremor, EEG with burst suppression, Hypsarrhythmia,... |
ORPHA:1934 |
Marden-Walker Syndrome |
|
Inguinal hernia, Congenital contracture, Low-set ears, Camptodactyly, Microphthalmia, Joint contr... |
OMIM:248700 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Monosomy 9Q22.3 |
|
Hyperactivity, Large for gestational age, Low-set ears, Microphthalmia, Umbilical hernia, Thicken... |
ORPHA:77301 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Low-set ears, Camptodactyly, Microphthalmia, Joint contracture of the hand |
OMIM:611961 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Sensorineural hearing impairment, Chorioretinal coloboma, Microp... |
ORPHA:139471 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Progressive sensorineural hearing ... |
OMIM:620186 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cyanosis, Cardiomegaly, Congestiv... |
ORPHA:980 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Retinal calcification, Cortical thickening of long bone di... |
ORPHA:93325 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Low-set, posteriorly rotated ears, Osteolysis, Acute lymphoblastic leukemia... |
ORPHA:1052 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Bilateral microphthalmos, Multilo... |
OMIM:601186 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia, Overgrowth |
OMIM:300607 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Cardiomega... |
ORPHA:904 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... |
ORPHA:1686 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Conductive hearing impairment, Hepatic steat... |
ORPHA:1606 |
Boudin-Mortier Syndrome |
|
Tall stature, Elevated alkaline phosphatase of bone origin, Difficulty walking |
OMIM:619543 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Abnormality of cartilage of external ear, Cupped ear, Bilateral microphthalmo... |
ORPHA:2399 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Warburg Micro Syndrome 2 |
|
Asymmetry of the ears, Flexion contracture, Optic atrophy, Spastic diplegia, Microphthalmia, Macr... |
OMIM:614225 |
Estrogen Resistance |
|
Osteopenia, Impaired glucose tolerance, Elevated alkaline phosphatase of bone origin, Hyperinsuli... |
OMIM:615363 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Low-set ears, Microphthalmia, Macrotia |
OMIM:615145 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Stillbirth, Low-set ears, Retinal vascular tortuosity, ... |
OMIM:243605 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353281 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:613456 |
Myhre Syndrome |
|
Small for gestational age, Ataxia, Obesity, Hypertension, Microtia, Low-set ears, Camptodactyly, ... |
OMIM:139210 |
Rothmund-Thomson Syndrome, Type 2 |
|
Underfolded helix, Small for gestational age, Osteoporosis, Annular pancreas, Telangiectasia, Pro... |
OMIM:268400 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Abnormal liver lobulation, Low-set ears, Microphthalmia |
ORPHA:99776 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Epiphyseal stippling, Poorly ossified vertebrae, Chorioretinal coloboma |
OMIM:619135 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Craniosynostosis |
ORPHA:1553 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Cat Eye Syndrome |
|
Biliary atresia, Low-set ears, Pulmonic stenosis, Chorioretinal coloboma, Umbilical hernia, Micro... |
OMIM:115470 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Blepharospasm, Microtia, Hypoplasia of the thymus, Abnormality... |
ORPHA:861 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Tremor, Hypertonia, Hepatic steatosis, Loss of facial adipose ... |
ORPHA:3455 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Simple ear |
OMIM:619318 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Sensorineural hearing impairment, Depression, Attention deficit hyperactivity di... |
ORPHA:250989 |
Trisomy 18 |
|
Omphalocele, Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Camptodactyl... |
ORPHA:3380 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Optic atrophy, Microtia, Microphthalmia |
ORPHA:3301 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Retinal coloboma, Low-set ears, Conductive hearing impairment, Microphth... |
OMIM:244300 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Facial palsy, Optic nerve hypoplasia, Exocrine pancreatic insufficiency, Ab... |
ORPHA:508498 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Hyperekplexia 1 |
|
Exaggerated startle response, Inguinal hernia, Hypertonia, Myoclonus, Umbilical hernia, Frequent ... |
OMIM:149400 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Obesity, Retinal vascular tortuosity, Hypercholestero... |
OMIM:619471 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Abnormal pinna morphology, Camptodactyly of finger, Congenital dia... |
ORPHA:1692 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear... |
OMIM:301018 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Retinal dystrophy, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614619 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Microphthalmia, Anophthalmia, Low-set ears |
ORPHA:2189 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Overfolded helix, Low-set ears |
OMIM:619339 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia |
OMIM:250790 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Ma... |
ORPHA:1578 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Low-set ears, Microphthalmia, Microtia, Congenital diaphragmatic hernia |
OMIM:612530 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Pigmentary retinopathy, Histiocy... |
OMIM:309801 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... |
OMIM:600376 |
Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Posteriorly rotated ears, Hiatus hernia, Microtia, Low-set ears, Decreased body ... |
OMIM:300895 |
Fryns Syndrome |
|
Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Large for gestational age, Stillbi... |
OMIM:229850 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... |
ORPHA:85188 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... |
OMIM:612109 |
Fanconi Anemia, Complementation Group L |
|
Anotia, Microtia, Bone marrow hypocellularity, Low-set ears, Attention deficit hyperactivity diso... |
OMIM:614083 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Accessory spleen, Anophthalmia, Abnormal chorioretinal morphol... |
ORPHA:564 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Abnormal pinna morphology, Posteriorly rotated ears, Spastic tetraparesis, Sensorineural hearing ... |
OMIM:616975 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas... |
ORPHA:289176 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Large earlobe, Failure to thrive, Low-set ears |
OMIM:257850 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Congestive heart failure, Sensorineu... |
ORPHA:444077 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Abnormal pinna morphology, Camptodactyly of finger, Bilateral microphthalmos, Micr... |
ORPHA:2839 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Retinal nonattachment, Buphthal... |
OMIM:221900 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy, Low-set ears, Camptodac... |
OMIM:614230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Buphthalmos, ... |
OMIM:253280 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Cupped ear, Ocular albinism, Microtia, Myoclonus, Microphthalmia |
ORPHA:1352 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Macrotia, Optic atrophy |
OMIM:234050 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Posteriorly rotated ea... |
OMIM:300166 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Congenital diaphragmatic hernia |
ORPHA:1915 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Low-set ears, Abnormal T-wave, Failure to thrive, Limb h... |
ORPHA:444072 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Vocal cord paralysis, Glucose intolerance, Portal hypertension, ... |
OMIM:194050 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Tremor, Sensorineural hearing impairment, Protruding ear, Truncal obesity, ... |
OMIM:612474 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears |
OMIM:607597 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Small for gestational age, Posterio... |
OMIM:612289 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Anophthalmia, Hiatus hernia, Abnormality of the spleen, Microphthalmia, Failure to ... |
ORPHA:2538 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Congestive heart failure, Abdominal situs inversus, Reduced bone mineral density |
ORPHA:2108 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... |
OMIM:187300 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration, Inguinal hernia, Uplifted earlobe |
OMIM:618548 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:231736 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Low-set ears |
ORPHA:163966 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia, Low-set ears, Craniosynostosis |
OMIM:251230 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response, Hypertonia |
OMIM:272800 |
Yunis-Varon Syndrome |
|
Absent sternal ossification, Abnormal pinna morphology, Cardiomegaly, Bilateral microphthalmos, R... |
ORPHA:3472 |
Charge Syndrome |
|
Omphalocele, Mixed hearing impairment, Anophthalmia, Facial palsy, Aplasia of the semicircular ca... |
OMIM:214800 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma |
OMIM:169550 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Witteveen-Kolk Syndrome |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Poor motor coordination, Congenital di... |
OMIM:613406 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate,... |
OMIM:249000 |
Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Sensorineural hearing impairment, Ret... |
OMIM:607323 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Frontonasal Dysplasia 2 |
|
Low-set ears, Microphthalmia, Craniosynostosis |
OMIM:613451 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Lipoma, Microphthalmia, Multiple central nervous system lipomas, Subcutan... |
OMIM:613001 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Teebi-Shaltout Syndrome |
|
Small earlobe, Low-set ears, Camptodactyly, Microphthalmia, Hypoplastic helices, Aortic valve ste... |
OMIM:272950 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia, Cellulitis |
OMIM:153400 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Hearing impairment |
ORPHA:77298 |
Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Posteriorly rotated ears, Microtia, Atresia of the external... |
OMIM:146510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Congenital contracture, Elevated circulating creatine kinase concent... |
OMIM:613150 |
Aicardi Syndrome |
|
Retinal detachment, Hepatoblastoma, Hiatus hernia, Chorioretinal lacunae, Optic disc coloboma, Op... |
OMIM:304050 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... |
OMIM:600001 |
Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, External ear malformation, Knee flexion contr... |
ORPHA:3103 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Uplifted earlobe, Asplenia, Flexion contracture, Abnormal repetitive mannerisms, EEG abnormality,... |
ORPHA:261537 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Stillbirth, Microphthalmia, Macrotia, Unicoronal synostosis |
OMIM:616300 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Optic disc coloboma, Low-set ears, Microphthalmia |
ORPHA:251014 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Facial palsy, Hearing impairment, External ear m... |
ORPHA:138 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Scarring alopecia of scalp, Enamel hypoplasia, Optic atrophy |
OMIM:618727 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Microphthalmia, ... |
ORPHA:391474 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Aganglionic megacolon, Radial club hand, Sensorineural hearing impairment,... |
ORPHA:959 |
Fryns Syndrome |
|
Omphalocele, Low-set, posteriorly rotated ears, Aganglionic megacolon, Congenital diaphragmatic h... |
ORPHA:2059 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Hearing impairment, Protruding ear |
ORPHA:1806 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Camptodactyly of finger, Low-set ears, Hearing impairment |
ORPHA:284160 |
Cousin Syndrome |
|
Posteriorly rotated ears, Microtia, first degree, Low-set ears, Camptodactyly, Microphthalmia, Jo... |
OMIM:260660 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353277 |
Rodrigues Blindness |
|
Microphthalmia, Protruding ear |
OMIM:268320 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Small earlobe, Failure to thrive, Hearing impairment |
ORPHA:364577 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Asplenia, Flexion contracture, Conductive hearing impairment, Abnormal repetiti... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Uplifted earlobe, Asplenia, Flexion contracture, Abnormal repetitive mannerisms, EEG abnormality,... |
ORPHA:261552 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Decreased calvarial ossification, Microtia, Low-se... |
OMIM:617925 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Thickened helices, Microphthalmia, S... |
ORPHA:2714 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Microtia, third degree, Femoral hernia, Anophthalmia, Anotia, Abnormal optic ner... |
ORPHA:3412 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Overfolded helix, Posteriorly rotated ears, Low-set ears |
OMIM:156610 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Irritability, Hypertonia, Dysphagia, Spasticity, EEG with generaliz... |
OMIM:618367 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Sensorineural hearing impairment, Spas... |
OMIM:206900 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:264480 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Anotia, Microtia, Atresia of the external auditory canal, Chorio... |
ORPHA:268249 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Inguinal hernia, Craniosynostosis, Cupped ear, Knee flexion contracture, Microphthal... |
OMIM:609945 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge... |
OMIM:608232 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Hyperactivity, Small for gestational age, Optic ner... |
ORPHA:508488 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Large earlobe, Hypertonia, Hypoplasia of the ear cartilage, Microphthalmia |
ORPHA:1236 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Abnormal antihelix morphology, Anotia, Microtia, Atresia of the ... |
ORPHA:261112 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Optic atrophy, Large earlobe, Camptodactyly of 2nd-5th fingers... |
ORPHA:1106 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Phthisis bulbi, Osteoporosis, Retinal calcification, Exudative retinopathy, Vitreoret... |
OMIM:259770 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Mixed hearing impairment, Anophthalmia, Congenital diaphragmatic he... |
OMIM:305600 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... |
OMIM:606519 |
Steinfeld Syndrome |
|
Absent gallbladder, Abnormal pinna morphology, Retinal coloboma, Microphthalmia, Hearing impairment |
OMIM:184705 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Spasticity, Remnants of the hyaloid vascular system |
OMIM:257910 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Flexion contracture, Cupped ear, Microtia, Low-set ears, Microphtha... |
OMIM:263650 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Curry-Jones Syndrome |
|
Microphthalmia, Bicoronal synostosis, Unicoronal synostosis |
OMIM:601707 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, Failure to thrive, Unilateral microphthalmos |
OMIM:618874 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Nance-Horan Syndrome |
|
Microphthalmia, Macrotia |
OMIM:302350 |
Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears |
OMIM:617666 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Irregular ossification of hand bones |
OMIM:109400 |
Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Anteverted ears, Umbilical hernia, Chorioretinal coloboma, Low-set ears, Microph... |
OMIM:613884 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Mixed hearing impairment, Optic atrophy |
OMIM:201180 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Microphthalmia, Anophthalmia |
OMIM:248450 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Elbow fle... |
OMIM:113620 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Abnormality of alkaline phosphatase level, Delayed ossification of carpal bones |
OMIM:300106 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Microphthalmia, Failure... |
OMIM:608670 |
Carney Complex |
|
Neoplasm of the pancreas, Dorsocervical fat pad, Congestive heart failure, Increased body weight,... |
ORPHA:1359 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, Cupped ear |
OMIM:110100 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Unilateral deafness, Cupped ear... |
OMIM:619539 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Umbilical hernia, Microphthalmia, Low-set, posteriorly rotated ears |
ORPHA:2166 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Atresia of the external auditory canal, Microphthalmia, Hearing ... |
ORPHA:3186 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Posteriorly rotated ears, Uplifted earlobe, Macrotia, Protruding... |
OMIM:607932 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, EEG abnormality |
ORPHA:2612 |
Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Low-set ears, Congenital diaphragmatic hernia |
OMIM:273395 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, Aortic valve st... |
OMIM:100300 |
Renpenning Syndrome 1 |
|
Cupped ear, Protruding ear, Joint contracture of the hand, Camptodactyly, Microphthalmia, Spastic... |
OMIM:309500 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Phace Syndrome |
|
Optic nerve hypoplasia, Hemiplegia/hemiparesis, Lens coloboma, Retinal vascular malformation, Mic... |
ORPHA:42775 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Abnormal pinna morphology, Stillbirth, Low-set ears, Microphthalmia |
OMIM:236680 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Ankle fl... |
OMIM:268300 |
Holoprosencephaly 7 |
|
Omphalocele, Microphthalmia, Macrotia, Bilateral microphthalmos |
OMIM:610828 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Prominent antihelix, Microphthalmia, Macrotia, Underdevelop... |
OMIM:610829 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Abnormal pinna morphology, Absent tragus, Atresia of the external auditory canal... |
OMIM:603457 |
Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Auricular tag, Large for gestational age, Dis... |
ORPHA:672 |
Neu-Laxova Syndrome 1 |
|
Macrotia, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Low-set ears, Campt... |
OMIM:256520 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Homocystinuria |
OMIM:601552 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Posteriorly rotated ears, Uplifted earlobe, Microtia, Low-set ears, Microphthalmia, Overfolded helix |
OMIM:616734 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:141099 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... |
OMIM:619522 |
Monosomy 13Q14 |
|
Protruding ear, Low-set ears, Thickened helices, Retinoblastoma, Microphthalmia |
ORPHA:1587 |
Fraser Syndrome |
|
Omphalocele, Low-set, posteriorly rotated ears, Anophthalmia, External ear malformation, Atresia ... |
ORPHA:2052 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Conductive heari... |
ORPHA:306542 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Uplifted earlobe, Cupped ear, Large earlobe, Pulmonic stenosis, Chorioreti... |
OMIM:235730 |
Fraser Syndrome 1 |
|
Anophthalmia, Abnormal pinna morphology, Cupped ear, Bilateral microphthalmos, Abnormal thymus mo... |
OMIM:219000 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Abnormal pinna morphology, Aganglionic megacolon, Aggressive behavior, Optic disc c... |
OMIM:309800 |
Townes-Brocks Syndrome |
|
External ear malformation, Abnormal tragus morphology, Microtia, Chorioretinal coloboma, Micropht... |
ORPHA:857 |
Isolated Arrhinia |
|
Microphthalmia, Microtia |
ORPHA:1134 |
Frontofacionasal Dysplasia |
|
Microphthalmia, Frontal cutaneous lipoma |
OMIM:229400 |
Holoprosencephaly 1 |
|
Microphthalmia, Hypoglycemia |
OMIM:236100 |
Holoprosencephaly 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma |
OMIM:157170 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Bilateral microphthalmos, Microtia, Atresia of the external audito... |
OMIM:154500 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditor... |
OMIM:164210 |