| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, B-cell lym... |
OMIM:619924 |
| Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod... |
OMIM:618261 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat... |
OMIM:615897 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia... |
OMIM:620270 |
| Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Decreased circulating... |
OMIM:619802 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th... |
OMIM:617872 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu... |
OMIM:613101 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Atelectasis, Pleural thickening,... |
ORPHA:2302 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... |
OMIM:620085 |
| Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ... |
OMIM:616050 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Lymphoproliferative disorder, Abnormal immuno... |
ORPHA:276 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impair... |
ORPHA:217012 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:90794 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ly... |
OMIM:615559 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Aggressive behavior, Tapered ... |
OMIM:609425 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recurrent pneumo... |
OMIM:617718 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Sensorineur... |
OMIM:610185 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b... |
ORPHA:100973 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... |
OMIM:243700 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age, Bruxism, Spasticity |
ORPHA:356996 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Inappropriate laughter... |
OMIM:616269 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... |
OMIM:614736 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... |
OMIM:614372 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Abnormal head movements, Restlessness, Incoordination, Involuntary movements,... |
ORPHA:157941 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,... |
OMIM:601678 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired proprioception, ... |
ORPHA:251282 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypogly... |
ORPHA:361 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyram... |
ORPHA:216873 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Ventriculomegaly |
OMIM:613402 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flappin... |
OMIM:617862 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:616291 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Dystonia, Tremor, Unsteady gait, Small hand, Abnormal pyramidal sign, Dysphag... |
OMIM:617435 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... |
ORPHA:90791 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa... |
OMIM:300983 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... |
OMIM:165300 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Recurrent respiratory infections, Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to ... |
OMIM:617695 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... |
OMIM:619470 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... |
OMIM:235200 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Ventriculomegaly, Rigidity, Chorea, ... |
ORPHA:248111 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Mirage Syndrome |
|
Hyponatremia, Decreased body weight, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypopla... |
OMIM:617053 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... |
OMIM:609260 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Failure to thrive, Proteinuria, Small for gestationa... |
ORPHA:97362 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Arthritis, Recur... |
OMIM:300310 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... |
OMIM:619150 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysphagia, Choreoathetosis, Cerebellar hypoplasia, Bilat... |
OMIM:619422 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum... |
ORPHA:182050 |
| Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Lymphoproliferative disorder |
OMIM:609981 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Hyperactivity, Incoordination, Abnormal pinna morphology, Failure to thrive in inf... |
OMIM:614104 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Impaired ADP-induced platelet aggregation, Giant platelets... |
OMIM:155100 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Ventriculomegaly, Stereotypical hand wringing |
OMIM:619561 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Waddling... |
ORPHA:2590 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Tremor, Prelingual sensorineural hearing impairment, Abnorma... |
ORPHA:52368 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Epistaxis, Decreased mean platelet volume, Intermittent thrombocytop... |
OMIM:313900 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo... |
ORPHA:101110 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... |
ORPHA:382 |
| Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity |
ORPHA:309169 |
| Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysp... |
ORPHA:85278 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... |
OMIM:615157 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia,... |
ORPHA:391417 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... |
ORPHA:540 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Tremor, Clinodactyly, Gait ataxia, Large fleshy ears, Impaire... |
OMIM:619092 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hearing impairment |
OMIM:312910 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... |
ORPHA:3095 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... |
ORPHA:36238 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigid... |
OMIM:618090 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Cerebellar hypoplasia, Attentio... |
OMIM:619556 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Incoordination, Tremor, Paraparesi... |
OMIM:302800 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... |
OMIM:301107 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Obes... |
ORPHA:251004 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Respiratory failure requiring assisted ventilation, Respiratory insufficiency, ... |
OMIM:620265 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Cerebellar vermis hypoplasia, Overlapping toe, Tapered finger, Optic atrophy, G... |
OMIM:617807 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Impaired vibratory sensation, Sensorineural hearing impairment, Clumsiness, Recurrent bacterial i... |
OMIM:610738 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia, Low-set ears |
OMIM:618951 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Retrograde ej... |
ORPHA:49041 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Micrognathia, Tremor, Babi... |
OMIM:300055 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... |
ORPHA:139485 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistoc... |
OMIM:274150 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia, Torticollis |
ORPHA:71518 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Tremor, Small hand, Short foot, Self-injurious behavior, Cerebellar h... |
ORPHA:238750 |
| Bernard-Soulier Syndrome |
|
Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Menorrhagia, Impaired ristoc... |
OMIM:231200 |
| Hyperekplexia 4 |
|
Umbilical hernia, Respiratory failure |
OMIM:618011 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... |
ORPHA:276435 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... |
ORPHA:199241 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c... |
OMIM:212140 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Dyspnea, Insulin resistance, Elevated urinary dopamine level, Elevated circulating ... |
ORPHA:230 |
| Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... |
ORPHA:85138 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm... |
OMIM:618093 |
| Pseudoachondroplasia |
|
Osteoarthritis, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis... |
ORPHA:750 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Apnea, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He... |
ORPHA:101075 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat... |
ORPHA:199299 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... |
OMIM:610600 |
| Specific Granule Deficiency 2 |
|
Brachydactyly, Abnormal pinna morphology, Posteriorly rotated ears, Sandal gap, Recurrent pneumon... |
OMIM:617475 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
| Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar... |
ORPHA:33445 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased... |
OMIM:603553 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... |
OMIM:222470 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... |
OMIM:615362 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, ... |
ORPHA:166002 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556037 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Hammertoe,... |
OMIM:618387 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... |
ORPHA:90790 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Postaxial polydactyly, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Poor ... |
ORPHA:544254 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, Dysmetria, ... |
OMIM:617302 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... |
OMIM:620158 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Syndromic Diarrhea |
|
Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, S... |
ORPHA:84064 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Recurrent infections, Aggressive behavior, Hearing impairment |
OMIM:248510 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri... |
OMIM:611302 |
| Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... |
OMIM:618718 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
| Spinocerebellar Ataxia Type 36 |
|
Ataxia, Vertigo, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, ... |
ORPHA:276198 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ... |
ORPHA:465508 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hype... |
OMIM:614702 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Eczema, Micrognathia, Repetitive compul... |
ORPHA:352490 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:168558 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Progressive heari... |
ORPHA:97229 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556030 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Ventriculomegaly, Abnormal pinna morphology, Sandal gap, Aggressive behavior, Trem... |
OMIM:300354 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... |
ORPHA:289548 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... |
OMIM:203400 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, D... |
OMIM:611590 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Babi... |
OMIM:210000 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Hip dysplasia, Hyperkinetic movements, Gait disturbance, Upper limb spasticit... |
ORPHA:457240 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Arachnodactyly, Gait d... |
ORPHA:412057 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Split hand, ... |
OMIM:118300 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, H... |
ORPHA:101078 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... |
OMIM:615924 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Adrenal hypoplasia, Renal salt... |
ORPHA:95409 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... |
ORPHA:101077 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... |
ORPHA:572 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Distal Deletion 10Q |
|
Clonus, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Prominent f... |
ORPHA:96148 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia... |
ORPHA:1368 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Aggressive behavior, 2-3 toe syndacty... |
OMIM:616809 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio... |
OMIM:620366 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Spastic tetraparesis, Micrognathia, Hemiparesis,... |
OMIM:604317 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Head titubation, Inabil... |
OMIM:312080 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum... |
ORPHA:60025 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Recurrent respiratory infections, Facial palsy, Tremor, Degeneration of anterior horn cells, Tong... |
OMIM:159950 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Optic atrophy, Abnormal pyramidal sign, T... |
ORPHA:369939 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Micrognathia, Sensorineural hearing impairment, Bruxi... |
OMIM:618342 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Nocturia, Increased blood urea nitrogen, Retrograde ... |
OMIM:223360 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
| 7Q31 Microdeletion Syndrome |
|
Speech apraxia, Prominent fingertip pads, Hyperactivity, Recurrent respiratory infections, Tortic... |
ORPHA:251061 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Respiratory insufficiency |
OMIM:245650 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short fourth metatarsal, Short metacarpal, Eczema, Pain insensitivity, Aggressive ... |
OMIM:600430 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... |
OMIM:153670 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss o... |
OMIM:617916 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal... |
OMIM:300623 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Posteriorly rotated ears, Clonus, Aggressive behavior, Tapered finger, Long finger... |
OMIM:617773 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r... |
ORPHA:158061 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls |
ORPHA:79136 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Sp... |
OMIM:608233 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Tremor, Micrognathia, Prominent protruding coccyx, Obesity, Spastic di... |
ORPHA:480907 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... |
ORPHA:500180 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... |
ORPHA:329284 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... |
ORPHA:99931 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, He... |
ORPHA:447 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| 13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Impaired pain sensation, Obesity, Atopic dermati... |
ORPHA:412035 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior, Recurrent otitis media, Spasticity, Failure to thrive, Ventri... |
OMIM:615286 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive... |
OMIM:615541 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thro... |
ORPHA:858 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Brachydactyly, Impaired pain sensation, Abnormality of the outer ear, Increased bo... |
OMIM:182290 |
| Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... |
ORPHA:228360 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor ... |
ORPHA:79263 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
| 48,Xxyy Syndrome |
|
Recurrent respiratory infections, Ataxia, Tremor, Obesity, Abnormal shoulder morphology, Radiouln... |
ORPHA:10 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevat... |
ORPHA:42 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Mesomelia, ... |
ORPHA:2631 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Talipes equi... |
OMIM:618917 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Ataxia, Pneumonia, Recurrent viral infections, Tre... |
OMIM:613179 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia... |
ORPHA:239 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lym... |
OMIM:618886 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia, Metacarpo... |
OMIM:300624 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Eczema, Sensorineural hear... |
OMIM:617751 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... |
OMIM:222300 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Overfriendliness, Hyperactivity, Syndactyly, Abnormal pinna morphology, Small ... |
OMIM:123450 |
| Gm1 Gangliosidosis |
|
Tremor, Decerebrate rigidity, Aspiration pneumonia, Infectious encephalitis, Ataxia, Abnormal dia... |
ORPHA:354 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki... |
ORPHA:330050 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, ... |
ORPHA:289494 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Spasticity, Ventriculomegaly, Hearing impai... |
ORPHA:457260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Recurrent respiratory infections, Pain insensitivity, Lower limb spasticity, Ataxia, Rigidity, Re... |
OMIM:300260 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Conductive hearing impairment, Delayed ep... |
OMIM:156550 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas... |
OMIM:201475 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, An... |
ORPHA:521406 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... |
ORPHA:66624 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... |
ORPHA:98764 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Crypto... |
OMIM:611209 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Spasticity |
OMIM:607624 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tapered finger, Tremor, Cerebellar gliosis, Babinski sign, Optic atro... |
OMIM:616505 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... |
OMIM:613493 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchiti... |
OMIM:300455 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Microtia, Brachydactyly |
ORPHA:221054 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... |
OMIM:619580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hyp... |
OMIM:619064 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorchidism, Abnormal ... |
OMIM:616737 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... |
OMIM:240500 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Cerebral palsy, Skin rash, Ataxia, Meningitis, Sensorineural hearing impairment, He... |
ORPHA:36412 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysm... |
OMIM:607694 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Optic atrophy, Hip dislocation, Dysmetria, Gait ata... |
OMIM:614381 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... |
OMIM:301013 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sandal gap, Ataxia, Aggressive behavior, Tapered finger,... |
OMIM:618430 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet... |
OMIM:256050 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Ma... |
ORPHA:90321 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Clumsiness, Agitation, Prominent... |
OMIM:300558 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Brachydactyly, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum, Sh... |
OMIM:614078 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Somatic sensory dysfunction, Membranoproliferative glomerulonep... |
OMIM:615816 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia, Limb undergrowth, Conductive hearing impairment, Abnormal me... |
ORPHA:1861 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise, Acute kid... |
ORPHA:57 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Decreased body weight, Spasticity, Ventricu... |
OMIM:300958 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
| Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Myelodysplasia, Neutropenia |
OMIM:617827 |
| Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... |
OMIM:601853 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, O... |
OMIM:614867 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, Inability to walk, Cerebellar gliosis, Recurrent infections, L... |
ORPHA:79243 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ... |
OMIM:619767 |
| Achondroplasia |
|
Brachydactyly, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Wide anterior fontanel, S... |
ORPHA:15 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, B-cell lymphoma, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM... |
OMIM:616005 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, B-cell lymphoma, Elevated... |
OMIM:619381 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hyperton... |
OMIM:619738 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Skin rash, Slender build, Arachnodactyly, Chorea, Myoclonus, Atten... |
OMIM:617600 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Optic atrophy, S... |
OMIM:617710 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... |
ORPHA:2038 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration, Dysp... |
OMIM:313200 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tapered... |
OMIM:619680 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Neonatal respiratory distress, Renal insufficiency, Failure to th... |
OMIM:617595 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroi... |
ORPHA:213 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Aggressive behavior, Babinski sign, Scissor gait, 2-3 toe syndactyly... |
OMIM:619121 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears, Fa... |
ORPHA:477673 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Micrognathia, Sensorineural hearing impairment, Obesity, Chiari type I malformati... |
ORPHA:261197 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Osteomyelitis, Small for gestational age, Rocker bottom foot, Micrognathia, K... |
ORPHA:453510 |
| Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Bowing of the long bones, Ca... |
ORPHA:628 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing... |
ORPHA:2928 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Microretrognathia, Tremor, Retrobulbar optic neu... |
OMIM:619737 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Ataxia, Impulsivity, Spastic tetraparesis, Cerebella... |
ORPHA:35069 |
| Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Lim... |
OMIM:248500 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... |
OMIM:222100 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Hyperkin... |
OMIM:271980 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
| Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Ataxia, Impulsivity, Aggressive behavior, Tapered finger, Chorea, Hi... |
OMIM:619435 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment |
OMIM:619473 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo... |
OMIM:620152 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Hip d... |
ORPHA:228402 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... |
OMIM:612692 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... |
ORPHA:98813 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Abnormal cranial nerve m... |
ORPHA:247234 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Sensorineural hea... |
ORPHA:87 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Protruding ear, Hyperactivity, Pain insensitivity, Large hands, Shuffling gait, Sho... |
OMIM:300534 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sandal gap, Tapered finger, Small hand, Obesity, Recurre... |
OMIM:618089 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Tapered finger, Hip dy... |
OMIM:616977 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Brachydactyly, Posteriorly rotated ears, Severe temper tantrums, Chiari type I mal... |
OMIM:618027 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Micrognathia, Optic atrophy, Hip dysplasia, Abnormal temper tantrums, Abno... |
ORPHA:530983 |
| Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... |
OMIM:607330 |
| Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia |
OMIM:128235 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis |
OMIM:613502 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R... |
OMIM:607594 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Cerebellar v... |
OMIM:617988 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Micromelia, Abnormal thumb m... |
ORPHA:1842 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi... |
OMIM:614868 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar vermis hypoplasia, Oral-pharyngeal dysphagia, Tremor, Prominent protruding coccyx, Pro... |
OMIM:300966 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Decreased sensitivity to hypoxemia, Increased bloo... |
OMIM:223900 |
| Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnorm... |
OMIM:615673 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... |
OMIM:300486 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Micrognathia, Tremor, Optic atrophy, Upper limb undergrowth, Small hand, Pontocerebellar ... |
OMIM:608799 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity, Bruxism, Inferior cerebellar vermis hypoplasia, Recurrent hand fl... |
OMIM:613192 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, 2-3 toe syndactyly, Upper li... |
OMIM:619229 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Hypocalce... |
OMIM:601005 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
| Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Psoriasiform dermatitis, Upper limb postural tremor, Abnormal... |
ORPHA:458803 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... |
ORPHA:157946 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra... |
OMIM:613095 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f... |
OMIM:218000 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Dpm1-Cdg |
|
Cerebellar atrophy, Ventriculomegaly, Sandal gap, Ataxia, Micrognathia, Optic atrophy, Pontocereb... |
ORPHA:79322 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Aggress... |
ORPHA:163681 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa ... |
ORPHA:93351 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Respiratory insuf... |
ORPHA:682 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Ma... |
OMIM:608836 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Sandal gap, Aggressive behavior, Tapered finger, Tremor, Micrognathia, 2-3 to... |
OMIM:617061 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthoto... |
OMIM:103050 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... |
ORPHA:340 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... |
OMIM:261640 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Cardiomegaly, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy,... |
ORPHA:391428 |
| Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, Laryngeal ... |
ORPHA:845 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Brad... |
OMIM:300894 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Tremor, Microtia, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
ORPHA:370079 |
| Ogden Syndrome |
|
Microretrognathia, Abnormal head movements, Torticollis, Broad hallux, Hypertonia, Shuffling gait... |
ORPHA:276432 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... |
ORPHA:100924 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
| Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Syndactyly, Ataxia, Incoordination, Hearing impairment, Aggressive b... |
ORPHA:369891 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
| Fg Syndrome 3 |
|
Hyperactivity, Broad hallux, Sensorineural hearing impairment, Chiari type I malformation, Broad ... |
OMIM:300406 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells... |
ORPHA:79124 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
| Radio-Tartaglia Syndrome |
|
Brachydactyly, Ataxia, Impulsivity, Aggressive behavior, Tapered finger, Tremor, Micrognathia, Ob... |
OMIM:619312 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
| Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis |
ORPHA:449285 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
| Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Gait disturbance... |
ORPHA:1803 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-muti... |
OMIM:615516 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Incoordination, Aggressive behavior, Paralysis, Parap... |
ORPHA:43 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro... |
OMIM:151210 |
| Ollier Disease |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia |
ORPHA:296 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia |
OMIM:616176 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... |
OMIM:618278 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
| Bernard-Soulier Syndrome |
|
Spontaneous, recurrent epistaxis, Asthma, Giant platelets, Decreased platelet glycoprotein Ib-IX-... |
ORPHA:274 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Sandal gap, Impulsivity, Aggressive behavior, Micrognathia, Cupped ear, 2-3 toe s... |
OMIM:618914 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Pulmonary arterial hypertension, Hyperalan... |
OMIM:619051 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Intrahepatic cholestasis, ... |
OMIM:227810 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Posteriorly rotated ears, Small for gestational age, Fractured radius, Decreased fib... |
OMIM:616897 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Micrognathia, Congenital sensorineural hearing impairme... |
ORPHA:73272 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Heparan sulfate exc... |
OMIM:252920 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
| Nipah Virus Disease |
|
Anorexia, Tremor, Recurrent pharyngitis, Vertigo, Myoclonus, Infectious encephalitis |
ORPHA:99825 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... |
OMIM:137440 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
| Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, M... |
ORPHA:1508 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Coxa valga, Optic atrophy, Spastic tetraplegia, Hypoplastic vertebral bodies, Gait distur... |
OMIM:230600 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, 2-3 toe cutaneous syndactyly, P... |
OMIM:620242 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Progressive sensorineu... |
OMIM:304700 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... |
OMIM:208920 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
| Thanatophoric Dysplasia, Type Ii |
|
Ventriculomegaly, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphys... |
OMIM:187601 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infections, Recurrent bacterial... |
OMIM:618048 |
| Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb mo... |
ORPHA:1597 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the... |
ORPHA:1192 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-sh... |
ORPHA:2635 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Congenital hip dislocation, Ataxia, Dystonia, Micrognathia, Fractures of the ... |
ORPHA:496641 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Aggressive behavior... |
ORPHA:85293 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglyc... |
ORPHA:2089 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, D... |
OMIM:610217 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior... |
OMIM:300322 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
| Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Metatarsus adductus, Hip dysplasia,... |
OMIM:301069 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, Myoglobinuria, Tachypnea, Hyperkalemia, Cardiomyocyte mitochondrial proliferation, H... |
ORPHA:423 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Optic atrophy, Calcification of cartilage, Recurrent sinusitis,... |
ORPHA:85202 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Waddling gait, Limb undergrowth, Bowing of the legs |
ORPHA:156728 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia... |
ORPHA:572798 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Aggressive behavior, Unilateral radial aplasia, Tapered finger, Partial absence of th... |
ORPHA:476126 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyse... |
OMIM:300863 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Posteriorly rotated ears... |
ORPHA:1427 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... |
ORPHA:911 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Thrombocytosis, Hypoglycemia, Anorexia, Leukocytosis, Tachypnea, Hyperam... |
ORPHA:134 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Micrognathia, Small hand, Short foot, Recurrent bacterial infections, L... |
OMIM:241410 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Waddling gait, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... |
OMIM:608728 |
| Thanatophoric Dysplasia |
|
Brachydactyly, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Lo... |
ORPHA:2655 |
| Slc39A8-Cdg |
|
Cerebellar atrophy, Failure to thrive in infancy, Inability to walk, Recurrent infections, Cutane... |
ORPHA:468699 |
| Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Tremor, Chorea, Conductive hearing impairment, Toe syndactyly, Poor ... |
OMIM:601808 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagi... |
OMIM:617664 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Flat acetab... |
OMIM:617102 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Clinodactyly, Ataxia |
OMIM:603585 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Anuria, Pneumonia, Dyspnea, Leukocytosis, Myoc... |
ORPHA:544482 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ventriculomegaly, Ataxia, Sensorineural hearing impairment, Dysmetria, Truncal ... |
OMIM:616541 |
| Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Rocker bottom foot, Impulsivity, Aggressive behavior, Micrognathia, Macrotia, Gait... |
ORPHA:363528 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, At... |
OMIM:213300 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Nail-biting, Hyperactivity, Prominent fingertip pads, Tapered finger, 2-3 toe synd... |
ORPHA:485405 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... |
ORPHA:420741 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive |
OMIM:602722 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Hyperactivity, Abnormal central motor function, Ataxia, Cerebra... |
ORPHA:760 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Hyperactivity, Toe clinodactyly, Sandal gap, Aplasia/Hypoplasia of the cerebel... |
ORPHA:254346 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Knee oste... |
ORPHA:93284 |
| Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Apnea, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphol... |
ORPHA:391673 |
| Immunodeficiency 12 |
|
Skin rash, Recurrent viral infections, Clubbing, Cheilitis, Bronchiectasis, Recurrent bacterial i... |
OMIM:615468 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Atrial septal defect, Hypothyro... |
ORPHA:769 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Tick-Borne Encephalitis |
|
Anorexia, Tremor, Tongue fasciculations, Meningitis, Abnormal medulla oblongata morphology, Facia... |
ORPHA:297 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Del... |
OMIM:613320 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Macrotia, Bulimia, Self-biting... |
OMIM:300912 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary mo... |
ORPHA:209905 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing... |
OMIM:609727 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired... |
OMIM:606002 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the endocr... |
ORPHA:487796 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:251274 |
| Achondrogenesis Type 2 |
|
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... |
ORPHA:93296 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Brachydactyly, Posteriorly rotated ears, Optic nerve hypoplasia, Ag... |
OMIM:616364 |
| X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dyst... |
ORPHA:53351 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Micromelia, Hypoplastic iliac wing, Sensorineural hearing impai... |
ORPHA:2637 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Obesity, Genu valgum, ... |
ORPHA:1035 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... |
OMIM:614921 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Tachypnea, Hyperkalemia, Episodic respiratory distress, Renal tubular epithe... |
ORPHA:31826 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Impaired pain sensation, Tremor, Impaired distal vibration sensat... |
OMIM:619574 |
| Image Syndrome |
|
Metaphyseal dysplasia, Low-set ears, Micromelia |
ORPHA:85173 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... |
ORPHA:429 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Sensorineural hearing impairment, Recurrent bacterial infections, Eczemato... |
OMIM:619693 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Short prox... |
ORPHA:261323 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Spina bifida occulta, Respiratory insufficiency due to muscle... |
OMIM:618291 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebellar vermis hypoplasia, Exaggerated startle response, Facial-lingual fascicu... |
OMIM:617281 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... |
OMIM:620141 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Waddling gait, Dystonia, Posteriorly rotated ears, Sandal gap, Micrognathia, Tremo... |
OMIM:617557 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:3429 |
| Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal wideni... |
OMIM:184260 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Small f... |
ORPHA:99843 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Limb ataxia, Paraplegi... |
OMIM:105210 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... |
ORPHA:3309 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s... |
ORPHA:139396 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Elevated ... |
ORPHA:308552 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Cough,... |
OMIM:619991 |
| Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Restlessness, Hyperactivity, Epiphyseal dysplasia, Aggressive behavior, Recur... |
OMIM:252940 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Nephrolithiasis,... |
OMIM:219090 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... |
OMIM:608184 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Posteriorly rotated ears, Micromelia, Bowing of the legs, Hypoplastic ilia, Mic... |
ORPHA:1865 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal... |
ORPHA:765 |
| Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Short femur, Bowing of the long bones, Micromelia, Hypoplastic ilia, Wide anterior... |
ORPHA:1860 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal pyramidal sign, Hypertonia, Otitis media, Aspiration pneumonia, Thickened helices, Condu... |
ORPHA:581 |
| Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Hearing impairment, Micromelia, Abnormality of the humerus, Micrognathia, Abnormal... |
ORPHA:2496 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Idiopathic Bronchiectasis |
|
Cachexia, Clubbing, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious... |
ORPHA:60033 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
| Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus, Hand polydact... |
ORPHA:475 |
| Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Recurrent bacterial skin infections, Somatic sensory dysfunction, Recurrent r... |
ORPHA:167 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder fl... |
OMIM:255800 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... |
OMIM:612541 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... |
OMIM:168605 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, ... |
ORPHA:52503 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypokalemia, Primary hyper... |
OMIM:615474 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood |
OMIM:617186 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testic... |
OMIM:160900 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia |
OMIM:619879 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Hyperactivity, Cerebellar vermis hypoplasia, Abnormal pinna mo... |
OMIM:210600 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
| 47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Hydrocephalus, Finger clinodactyly, Low-set ears, Attention deficit h... |
ORPHA:8 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Hyperactivity, Toe syndactyly, Abnormal pinna morphology, Camptodactyly of fin... |
ORPHA:261211 |
| 48,Xxxy Syndrome |
|
Recurrent respiratory infections, Down-sloping shoulders, Coxa valga, Tremor, Hip dislocation, Ob... |
ORPHA:96263 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, T... |
OMIM:300998 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxi... |
OMIM:602481 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, Cholestasi... |
OMIM:619377 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Respiratory paralysis, Postprandial hyperglycemia, ... |
ORPHA:681 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Irritability, Hypern... |
OMIM:300539 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
| Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... |
ORPHA:486 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... |
ORPHA:1329 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
| Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, T... |
ORPHA:220497 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Posteriorly rotated ears, Rhizomelia, Micromelia, Micrognathia... |
ORPHA:93329 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural heari... |
ORPHA:79107 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Microm... |
ORPHA:2772 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Micrognathia, Prot... |
OMIM:619695 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Micromelia, Lateral ventricle dilatation, Low-set ears, Camptod... |
OMIM:610015 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... |
ORPHA:466768 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidity, Gait ataxia, Choreo... |
OMIM:618877 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal bloo... |
ORPHA:31824 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Absent thumb, Micrognathia, Short thumb, 2-3 toe syndactyly, Abnormal optic disc m... |
OMIM:617516 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... |
ORPHA:183 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Optic nerve... |
OMIM:615574 |
| Cinca Syndrome |
|
Papilledema, Skin rash, Uveitis, Arthritis, Progressive sensorineural hearing impairment, Meningi... |
OMIM:607115 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Hepatitis, Sepsis, Chronic hepatitis, Ankle clonus, Sclerosing cholangitis, Re... |
OMIM:308230 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Tachypnea, Abnormal blood ion concent... |
ORPHA:173 |
| Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneu... |
OMIM:614700 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Micrognathia, Tremor, Dysmetria, Progressive cere... |
ORPHA:502423 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Crackles, Cylindruria, Macroscopic hematuri... |
OMIM:233450 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap... |
ORPHA:177 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Micrognathia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairmen... |
OMIM:617675 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi... |
OMIM:147060 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Aqueductal stenosis, Hypoplasti... |
OMIM:619512 |
| Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Recurrent ... |
ORPHA:2203 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Atrial septal defect, Hepatomegaly, Apnea, External genita... |
ORPHA:79330 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Opisthotonus, Hypertonia, Narrow greater sciatic notch, Short phalanx of finger, Ab... |
ORPHA:508533 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... |
ORPHA:199343 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Overweight, Dilated third ventricle, Sensorineural hearing impa... |
OMIM:619575 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Optic atrophy, Uveitis, Arthritis, Conjunctivit... |
ORPHA:575 |
| Cinca Syndrome |
|
Brachydactyly, Retrobulbar optic neuritis, Sensorineural hearing impairment, Meningitis, Uveitis,... |
ORPHA:1451 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Bowing of the... |
ORPHA:1855 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Hearing impairment, Hydrocephalus, Abnormal metaphysis morphology, Ventriculomegaly, ... |
ORPHA:93274 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... |
ORPHA:980 |
| Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, T... |
ORPHA:220493 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Micrognathia, Sensorineural hearing impairment, Decreased body weight, Clinodactyl... |
OMIM:608747 |
| Apparent Mineralocorticoid Excess |
|
Small for gestational age, Hypokalemia, Failure to thrive, Decreased circulating aldosterone leve... |
OMIM:218030 |
| 49,Xxxxy Syndrome |
|
Recurrent respiratory infections, Down-sloping shoulders, Coxa valga, Tremor, Hip dislocation, Ra... |
ORPHA:96264 |
| Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Gluco... |
ORPHA:358 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Arthritis, Bilateral sensorine... |
ORPHA:397744 |
| Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Uveitis, Limb hypertonia, Conjunctivitis, Gait disturbance, Diffic... |
ORPHA:90322 |
| Leprechaunism |
|
Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hy... |
ORPHA:508 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Vipoma |
|
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... |
ORPHA:97282 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis |
OMIM:613496 |
| Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Tremor, Cranial nerve compression, Paroxysmal vertigo, Vocal cord paralysis, ... |
ORPHA:94080 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Ri... |
ORPHA:25 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating cer... |
OMIM:620306 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Protruding ear, Hypertonia, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive... |
OMIM:619475 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Dysphagia, Loss ... |
OMIM:607426 |
| Whipple Disease |
|
Myositis, Pericarditis, Ataxia, Cachexia, Anorexia, Myocarditis, Hydrocephalus, Abnormal pyramida... |
ORPHA:3452 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| 7Q11.23 Microduplication Syndrome |
|
Micrognathia, Dysmetria, Abnormal optic disc morphology, Chronic otitis media, Abnormal repetitiv... |
ORPHA:96121 |
| Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... |
ORPHA:2388 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Brachydactyly, Abnormal morphology of the radius, Abnor... |
ORPHA:950 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N... |
OMIM:617713 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:617044 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressib... |
ORPHA:403 |
| Pyruvate Carboxylase Deficiency |
|
Anorexia, Tachypnea, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Elevate... |
ORPHA:3008 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Small for gestational age, Rhizom... |
OMIM:616229 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
| Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Short foot, Slender long bone, Recurrent bacterial infections, Short palm |
OMIM:244460 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... |
ORPHA:2639 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Renal tu... |
ORPHA:69076 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Mend Syndrome |
|
Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggressive beh... |
ORPHA:401973 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Posteriorly rotated ears, Micromelia, Micrognathia, Postaxial h... |
OMIM:211750 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card... |
OMIM:266500 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, ... |
OMIM:606367 |
| Vici Syndrome |
|
Recurrent respiratory infections, Cerebellar vermis hypoplasia, Recurrent viral infections, Micro... |
OMIM:242840 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Shwachman-Diamond Syndrome |
|
Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Recurrent viral infections, Metaphyseal c... |
ORPHA:811 |
| Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasi... |
ORPHA:2754 |
| Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Microretrognathia, Asymmetry of the ears, Hypertonia, Hyperkinetic movements,... |
OMIM:619124 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Jeavons Syndrome |
|
Abnormal head movements, Limb myoclonus |
ORPHA:139431 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Rhizomelia, Micrognathia, Tremor, Recurrent pneumonia, Recurrent infe... |
OMIM:616271 |
| Transketolase Deficiency |
|
Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivitis, Compulsive behaviors, At... |
ORPHA:488618 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Anorexia, Bowing of the legs, Micromelia, Stillbirth, Short rib... |
OMIM:241500 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Kinsship Syndrome |
|
Ventriculomegaly, Spastic tetraparesis, Coxa valga, Micrognathia, Hip dislocation, Fibular hypopl... |
OMIM:619297 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Anemia, Decreased urinary potassium |
OMIM:611489 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Posteriorly rotated ears, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Mesomelia, Low-s... |
OMIM:612813 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... |
OMIM:601495 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Hyperactivity, Toe syndactyly, Small for gestational age, Eczem... |
ORPHA:464306 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Dpagt1-Cdg |
|
Arachnodactyly, Ataxia, Akinesia, Aggressive behavior, Tremor, Abnormal cerebellum morphology, In... |
ORPHA:86309 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent viral infections... |
OMIM:102700 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosp... |
OMIM:608013 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
| Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Micrognathia, Metatarsus adductus, Repetitive compulsive behavior, Osteopathia ... |
ORPHA:513456 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... |
OMIM:613677 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest |
ORPHA:26791 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
| Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid tuberosities, Rhizomeli... |
OMIM:619636 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
| Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... |
ORPHA:2688 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Hearing impairment, Micromelia, Short ... |
ORPHA:3258 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Sensorineural hearing impairment, Babinski sign, Impaired... |
ORPHA:447753 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Short palm, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Aggress... |
OMIM:614756 |
| Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... |
ORPHA:646 |
| Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyrami... |
ORPHA:58 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... |
OMIM:618527 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Leukopenia, Hy... |
ORPHA:99826 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... |
OMIM:617913 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment |
OMIM:120100 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia... |
ORPHA:1908 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... |
OMIM:239850 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... |
ORPHA:2633 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Failure to thrive, Abnormal pelvis bone morpholog... |
ORPHA:2273 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
| Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Micromelia, Recurrent bacterial infections, Short palm, Failure to thriv... |
ORPHA:2176 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Hepatoblastoma, Neonat... |
OMIM:130650 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Broad hallux, Sandal gap, Aggressive behavior, Obesity, Self-injurious behavior, H... |
OMIM:616078 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... |
OMIM:619573 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Skin rash, Camptodactyly of finger, Keratitis, Hearing abnormality, Hemiplegia... |
ORPHA:464 |
| Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Hallux valgus, Hyperactivity, Arachnodactyly, Overlapping toe,... |
ORPHA:3379 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Oliguria, ... |
ORPHA:466650 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Failure to thrive, Hepati... |
ORPHA:14 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Limb hypertonia, Cerebellar hypoplasia,... |
OMIM:620327 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... |
ORPHA:79139 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Large for gestational age, Vesicoureteral reflux, Nephropathy... |
ORPHA:116 |
| Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Abnormal autonomic nervous... |
ORPHA:2828 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Renal tub... |
ORPHA:411629 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Aqu... |
OMIM:251230 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ... |
ORPHA:2249 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Hearing impairment, Decreased nerve conduction velocity, Tremor, Tip-toe ... |
ORPHA:512 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Infectious encephalitis, Abnormal head movements |
ORPHA:363558 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Cogwheel... |
ORPHA:254892 |
| Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Postaxial hand polydactyly, Optic disc coloboma, Oc... |
ORPHA:1454 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Mend Syndrome |
|
Microretrognathia, Hyperactivity, Posteriorly rotated ears, Broad hallux, Overlapping toe, Microg... |
OMIM:300960 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
| Pycnodysostosis |
|
Rhizomelia, Micrognathia, Overweight, Acromelia, Small hand, Short foot, Mesomelia, Mild conducti... |
ORPHA:763 |
| Charge Syndrome |
|
Low-set, posteriorly rotated ears, Brachydactyly, Facial palsy, Hearing impairment, External ear ... |
ORPHA:138 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervou... |
OMIM:168600 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Ataxia, Decreased ne... |
OMIM:214500 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Chorea, ... |
ORPHA:2131 |
| 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 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency... |
ORPHA:18 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Failure to thr... |
ORPHA:349 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Posteriorly rotated ears, Large for gestational age, Tremor, Micrognathia, Cu... |
OMIM:614080 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Short long bone, Ta... |
OMIM:224410 |
| Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating ren... |
OMIM:263800 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Metatarsus adductus, Rigidity, Hydro... |
ORPHA:35107 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration... |
ORPHA:642 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb undergrowth, Narr... |
OMIM:602557 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysph... |
ORPHA:683 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:212065 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Microretrognathia, Brachydactyly, Proportionate shortening of all digits, Tap... |
ORPHA:280633 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Brachydactyly, Posteriorly rotated ears, Small for gestational age, Overlapping to... |
OMIM:309590 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... |
OMIM:215140 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
| Ogden Syndrome |
|
Apnea, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Mic... |
OMIM:300855 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis |
OMIM:617478 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ... |
OMIM:166210 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Respiratory failure, Large placenta |
ORPHA:254528 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... |
ORPHA:99956 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Abnormal pinna morphology, Posteriorly rotated ears, Bowing of the legs, Sh... |
OMIM:269860 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ... |
OMIM:612651 |
| Helsmoortel-Van Der Aa Syndrome |
|
Compulsive behaviors, Short 4th toe, Prominent fingertip pads, Clinodactyly of the 5th finger, Ab... |
OMIM:615873 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia... |
OMIM:615636 |
| Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Broad phalanx, Camptodactyly of... |
OMIM:166250 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
| Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia... |
ORPHA:125 |
| Hall-Riggs Syndrome |
|
Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology, Failure to thriv... |
ORPHA:2107 |
| Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Cartilage destruction, Myocarditis, Recurrent pharyngitis, Hepatitis, Ar... |
ORPHA:829 |
| Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ... |
OMIM:177200 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Metaphyseal wideni... |
ORPHA:93352 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hypoplastic p... |
ORPHA:2616 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema |
OMIM:261740 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
| Listeriosis |
|
Tremor, Sepsis, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis, Brain abscess... |
ORPHA:533 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased ... |
OMIM:612780 |
| Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C... |
ORPHA:48818 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Chiari type ... |
OMIM:270400 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Depression |
OMIM:618798 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Tremor, Choreoathetosis, Self-injurious behavior, My... |
ORPHA:1934 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Recurrent skin infections, Impaired pain sensation, Hair-pulling, Obesity, Large h... |
ORPHA:48652 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micromelia, Micrognathia, Hypertonia, Otitis media, Clinodactyly of ... |
OMIM:122470 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis, Hypop... |
OMIM:208000 |
| Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Uveitis, Persis... |
OMIM:615122 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Hearing abnormality, Wide anterior fon... |
ORPHA:2021 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Hydro... |
OMIM:224400 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Subvalvular aortic... |
ORPHA:47159 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsi... |
ORPHA:534 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial... |
OMIM:210710 |
| Helix Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... |
ORPHA:31204 |
| Osteogenesis Imperfecta |
|
Micromelia, Micrognathia, Osteoarthritis, Abnormal tibia morphology, Abnormal femur morphology, F... |
ORPHA:666 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Hypertonia, Cerebellar hypoplasia, Failure to thrive, Adducted thumb |
ORPHA:50810 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Eczema, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses, Ch... |
OMIM:618162 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Lower limb spasticity, Clonus, Hair-pulling, Pro... |
ORPHA:447997 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Dysphagia, Right ... |
ORPHA:268 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Brachydactyly, Micrognathia, Sensorineural hearing impairment, Partial ... |
OMIM:616331 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Low-set, posteriorly rotated ears, Rhizomelia, Posteriorly rotated ears, Mesomelia, Broad thumb, ... |
ORPHA:171866 |
| Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Metaphyseal dysplasia, Bowing of the long bones, Aganglionic m... |
ORPHA:175 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Depression, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen... |
OMIM:619259 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Obesity, Hip dysplasia, Microtia, Limb undergrowth, Clinodactyly of t... |
ORPHA:319675 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Cerebellar hypoplasia, Talipes... |
ORPHA:86822 |
| Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Ataxia, Paraparesis, 4-5 finger syndactyly, Hip dislocation, Uveitis, ... |
OMIM:164200 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Micrognathia, Obesity, Upper limb undergrowth, Slender long bone, Low-set ear... |
ORPHA:369837 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Recurrent skin infections, Sepsis |
OMIM:612840 |
| Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, ... |
ORPHA:231632 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Ataxia, Small for gestational age, Tremor, Low-set ears, Neonatal death, Failu... |
OMIM:614052 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Vertigo, Sensorineural h... |
ORPHA:728 |
| Legius Syndrome |
|
Hyperactivity, Chiari type I malformation, Diaphyseal dysplasia, Vestibular schwannoma, Polydacty... |
ORPHA:137605 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
| Sponastrime Dysplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
| Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Eczema, Inability to walk, Sensorineural hearing impairment, 2-3 toe... |
ORPHA:488632 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked ... |
OMIM:216400 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Hypertonia, Low-set, posteriorly rotated ears, Gait disturba... |
ORPHA:800 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Otosclerosis, Hyperactivity, Impulsivity, Aggressive be... |
ORPHA:580 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, U... |
OMIM:617866 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Obesity, Small h... |
OMIM:614947 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
| Ataxia-Telangiectasia |
|
Sinusitis, Ataxia, Tremor, Inability to walk, Slurred speech, Bronchiectasis, Choreoathetosis, Pr... |
OMIM:208900 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tachypnea, Renal cyst, Polyc... |
ORPHA:137675 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Abnorm... |
OMIM:186580 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Posteriorly rotated ears, Sandal gap, Micrognathia, Mesomelia, Low-set ears, Campto... |
OMIM:618529 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Brachydactyly, Ataxia, Tarsal synostosis, Micrognathia, Tremor, Preaxial hand ... |
ORPHA:2750 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Tremor, Optic atrophy, Abnormal pyramida... |
OMIM:612199 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Low-... |
ORPHA:818 |
| Omenn Syndrome |
|
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... |
OMIM:603554 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
| Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Diabetes mellitus, Apnea, Hypoglycemia, Secundum atrial septal defect, Hypergl... |
OMIM:609069 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetitive mannerisms... |
ORPHA:353281 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Cerebe... |
OMIM:133540 |
| Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth |
OMIM:259720 |
| Rift Valley Fever |
|
Skin rash, Anorexia, Paralysis, Paraparesis, Vertigo, Severe viral infection, Hepatitis, Uveitis,... |
ORPHA:319251 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri... |
ORPHA:96191 |
| Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, Hypertonia, Compulsive behaviors, Aplasia/... |
ORPHA:199 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Erythema nodosum, Clubbing, Bronchiectasis, Uveitis |
OMIM:612387 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impaired glucose tol... |
OMIM:256040 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Kagami-Ogata Syndrome |
|
Micrognathia, Coxa valga, Long fingers, Microtia, Limb undergrowth |
OMIM:608149 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Micrognathia, Wide anterior fontanel, Short toe, Low-set ears, Limb undergrowth, Short phalanx of... |
OMIM:225410 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Optic disc coloboma, Short phalanx of... |
OMIM:600092 |
| Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Myoca... |
ORPHA:466677 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... |
OMIM:230000 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Waddling gait, Dystonia, Small for gestational age, Posteriorly rotated ears, Sand... |
ORPHA:506358 |
| Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration |
ORPHA:506 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,... |
OMIM:600001 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Chiari type I malformation, Otitis media, Compulsive behaviors, Conductive hearing ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Chiari type I malformation, Otitis media, Compulsive behaviors, Conductive hearing ... |
ORPHA:353277 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Inappropriate laughter, Cardiomegaly |
OMIM:618143 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Tremor, Hydrocephalus, Abnormal epiph... |
ORPHA:667 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi... |
OMIM:268310 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggressive... |
OMIM:300967 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Recurrent bacterial infections, Inflammation of the large intestine, Eryth... |
OMIM:615895 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Aplasia of the semicircular canal, Sensorineural... |
ORPHA:648 |
| Familial Aortic Dissection |
|
Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea |
ORPHA:229 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Flared metaphysis,... |
OMIM:618019 |
| Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Brucellosis |
|
Anorexia, Chorea, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteriti... |
ORPHA:1304 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Cartilage destruction, ... |
ORPHA:29207 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Depression... |
OMIM:157640 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m... |
ORPHA:50945 |
| Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Abnormal cartilage morphology, Tetraplegia, Hemiparesis, Hypertonia, Hemiple... |
ORPHA:2396 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir... |
ORPHA:647 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus... |
OMIM:616546 |
| Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Sensorineural hearing impairment, Failure to thrive, Recurrent in... |
OMIM:300972 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ... |
ORPHA:2879 |
| Raine Syndrome |
|
Mixed hearing impairment, Bowing of the long bones, Abnormal pinna morphology, Posteriorly rotate... |
OMIM:259775 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Recurrent pneumoni... |
OMIM:252500 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Failure to t... |
OMIM:612132 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Iridocyclitis, Kne... |
ORPHA:85408 |
| Lyme Disease |
|
Meningitis, Uveitis, Arthritis, Paresthesia, Infectious encephalitis |
ORPHA:91546 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, Absence of alpha granules, Im... |
OMIM:187900 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, Weight loss, Difficulty walking, ... |
OMIM:164310 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Abnormal c... |
ORPHA:3385 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, He... |
ORPHA:828 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chroni... |
ORPHA:51 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
| Cogan Syndrome |
|
Episcleritis, Abnormal vestibular function, Keratitis, Sensorineural hearing impairment, Vertigo,... |
ORPHA:1467 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin |
ORPHA:79404 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Ventriculomegaly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia... |
OMIM:256520 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Recurrent respiratory infections, Microtia, third degree, Posteriorly rotated ... |
ORPHA:2753 |
| Tropical Endomyocardial Fibrosis |
|
Orthopnea, Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement,... |
ORPHA:75565 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Abnormality of the ear, Chiari type I malformation, Hypoplastic vertebral bodies, Hyperto... |
ORPHA:3455 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
| 8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Finger clinodactyly, Tics, Clinodactyly of the 5th finger... |
ORPHA:508488 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulc... |
ORPHA:810 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... |
ORPHA:731 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal ti... |
ORPHA:96334 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Esophagitis |
ORPHA:71272 |
| Alkaptonuria |
|
Cartilage destruction, Hearing abnormality, Osteoarthritis, Arthritis, Calcification of cartilage... |
ORPHA:56 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Bohring-Opitz Syndrome |
|
Apnea, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Severe failure to thr... |
ORPHA:97297 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Hypertonia, Short palm, Large iliac wing, C... |
ORPHA:2636 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Mixed hearing impairment, Facial palsy, Down-sloping shoulders, Micrognat... |
OMIM:214800 |
| Generalized Pustular Psoriasis |
|
Pustule, Overweight, Cheilitis, Uveitis, Obesity, Sepsis, Arthritis, Palmoplantar pustulosis, Ery... |
ORPHA:247353 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, A... |
ORPHA:51608 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth, Recurrent lower respiratory tract infections, Failure to thrive, Hip dislocation |
OMIM:618005 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Respiratory failure |
OMIM:300868 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive |
OMIM:617388 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Recurrent bacterial infections, Inflammatio... |
ORPHA:79259 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long... |
ORPHA:488434 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportio... |
OMIM:263520 |
| Moderate Hemophilia A |
|
Cartilage destruction, Hip contracture, Synovitis |
ORPHA:169805 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Abnormality of the hepatic vascula... |
ORPHA:1677 |
| Lysinuric Protein Intolerance |
|
Glomerulonephritis, Tubulointerstitial nephritis, Membranous nephropathy, Recurrent bacterial inf... |
ORPHA:470 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, Failure to thrive |
ORPHA:85410 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Hyperthyroidism, Depression |
OMIM:170390 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Anorexia, Iridocyclitis, Clubbing, Bronchiectasis, Uveitis, Weight loss, Arthri... |
OMIM:181000 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Erythema |
ORPHA:2556 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... |
OMIM:601104 |
| Costello Syndrome |
|
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency |
OMIM:218040 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
| Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Inflammation of the large intestine, Pancreatitis, Gout |
OMIM:232220 |
| Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
| Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Low-s... |
ORPHA:3003 |
| Localized Scleroderma |
|
Fasciitis, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Hashimoto thyroiditis |
ORPHA:90289 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Impaired pain sensation, Metaphyse... |
ORPHA:3206 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Weig... |
ORPHA:171 |
| Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Bowing of the legs, M... |
OMIM:610682 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Small for gestational age |
ORPHA:567983 |
| Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbilical hernia |
OMIM:304120 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea |
ORPHA:91387 |
| Leprosy |
|
Autoamputation of digits, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ... |
ORPHA:548 |
| Hallermann-Streiff Syndrome |
|
Micrognathia, Small hand, Uveitis, Short foot, Cerebellar hypoplasia, Short ribs, Clinodactyly of... |
ORPHA:2108 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Papilledema, Skin rash, Anorexia, Intermediate uveiti... |
ORPHA:91500 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Uveitis |
OMIM:193235 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Umbilical hernia, Ecchymosis, Acrocyanosis, Frag... |
ORPHA:287 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Unilateral lung agenesis, Respiratory failure |
ORPHA:500150 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Keratitis, Optic atrophy, Uveitis, Spasticity |
OMIM:308300 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Umbilical hernia, Acrocyanosis, Apnea |
ORPHA:285 |
| Leptospirosis |
|
Papilledema, Pericarditis, Skin rash, Anorexia, Hepatitis, Uveitis, Optic neuritis, Meningitis |
ORPHA:509 |
| Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Pa... |
ORPHA:95159 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Pneumothorax, Cystocele, Respirator... |
ORPHA:286 |
| Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Pa... |
ORPHA:79277 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Aortic valve stenosis, Subv... |
OMIM:182250 |
| Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis |
OMIM:107320 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
| Sarcoidosis |
|
Maculopapular exanthema, Facial palsy, Erythema nodosum, Bronchiectasis, Uveitis, Weight loss, Tu... |
ORPHA:797 |
| Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Uveitis |
ORPHA:158000 |
| Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Uveitis |
OMIM:221900 |
| Retinoblastoma |
|
Uveitis |
ORPHA:790 |
