| 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 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... |
OMIM:619924 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,... |
OMIM:608898 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Hodgkin lym... |
ORPHA:158057 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... |
OMIM:300400 |
| Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... |
OMIM:308240 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Reduced natural killer cell activity, Decreased ci... |
OMIM:619281 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Hypoglycemia, ... |
OMIM:617872 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Hearing impairment, Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Aggressive beh... |
OMIM:620270 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Vertigo, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertrophy, Desquamat... |
OMIM:263000 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... |
OMIM:620085 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hearing impairment, Gait ataxia, Tr... |
ORPHA:217012 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In... |
OMIM:619313 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... |
OMIM:212050 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting,... |
ORPHA:90794 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... |
OMIM:265120 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:616081 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Optic Atrophy 2 |
|
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... |
ORPHA:319552 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Failure to thrive, Gait ataxia, Motor stereotypy, Aggressive behavior, Hyperactivit... |
OMIM:609425 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Small hand, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar ... |
OMIM:610185 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory... |
OMIM:619773 |
| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Clumsiness, ... |
ORPHA:100973 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... |
OMIM:613953 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Small hand, Inability to walk, Inappropriate laughter, Tremor, Self-mutilation, Aggressive behavi... |
OMIM:616269 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... |
OMIM:613090 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Failure to thrive, Cervical lymphadenopathy, Lymphocytosis, Lymph... |
OMIM:617718 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... |
ORPHA:363710 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... |
OMIM:614372 |
| Huntington Disease-Like 1 |
|
Involuntary movements, Ventriculomegaly, Cerebellar atrophy, Abnormal head movements, Incoordinat... |
ORPHA:157941 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemi... |
OMIM:613845 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia, Respir... |
ORPHA:70587 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased gl... |
OMIM:602522 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... |
ORPHA:2302 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation |
OMIM:141500 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s... |
OMIM:214700 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Focal dystonia, Violent behavior, Chorea, Limb dystonia, Tremor, Rigid... |
ORPHA:216873 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Obesity, Recurrent sinusitis, Attention deficit hyperactivity disorder, R... |
OMIM:300310 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly, Cerebellar atrophy, Hyperactivity, Ataxia |
OMIM:613402 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Ventriculomegaly, Cerebellar atrophy, Hand tremor, Gait ataxia, Recurrent hand ... |
OMIM:617862 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... |
ORPHA:2032 |
| Lichtenstein-Knorr Syndrome |
|
Vestibular hypofunction, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia,... |
OMIM:616291 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal ... |
OMIM:601678 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia |
OMIM:620484 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di... |
OMIM:165300 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna mor... |
OMIM:300983 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Small hand, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Bruxism, Tre... |
OMIM:617435 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Atypical Rett Syndrome |
|
Spasticity, Small hand, Loss of ambulation, Short foot, Involuntary movements, Limb myoclonus, In... |
ORPHA:3095 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Hydrocephalus, Spast... |
OMIM:619470 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Limb myoclonus, High-frequency sensorineural hearing impairment, ... |
ORPHA:2590 |
| Bartter Syndrome, Type 2, Antenatal |
|
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, ... |
OMIM:241200 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Spasticity, Broad-based gait, Hypoplasia of the pons, Recurrent respirat... |
OMIM:617695 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ventriculomegaly, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclo... |
ORPHA:248111 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Distal ... |
OMIM:609260 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ventriculomegaly, Falls, Bruxism, Chorea, Inappropriate laughter, Dystonia, Motor stereotypy, Agg... |
OMIM:619150 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Bruxism, Tremor, Self-mutilation, Cerebellar hypoplasia, Ataxia, Bilateral sensori... |
OMIM:619422 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Te... |
OMIM:620546 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Small for gestational age, Incoordination, Failure to thrive in infancy, Inappropriate laughter, ... |
OMIM:614104 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... |
OMIM:242860 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Ventriculomegaly, Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Immunodeficiency 54 |
|
Lymphoproliferative disorder, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... |
ORPHA:79126 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Pneumocystosis |
|
Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ... |
ORPHA:723 |
| Mohr-Tranebjaerg Syndrome |
|
Prelingual sensorineural hearing impairment, Aspiration pneumonia, Sensorineural hearing impairme... |
ORPHA:52368 |
| Amyotrophic Lateral Sclerosis 28 |
|
Respiratory failure |
OMIM:620452 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Vertigo, Gait a... |
ORPHA:101110 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased blood urea nitro... |
ORPHA:231111 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia |
ORPHA:309169 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Abnormal head movements, Chorea, Abnormality of extrapyramidal motor fun... |
ORPHA:382 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Christianson Syndrome |
|
Ventriculomegaly, Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Cachexia, Aplasia/Hypo... |
ORPHA:85278 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:266 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Hsd10 Disease |
|
Optic atrophy, Ventriculomegaly, Spastic paraparesis, Hearing impairment, Myoclonus, Tremor, Rigi... |
ORPHA:391417 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Gait apraxi... |
OMIM:615157 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... |
ORPHA:182050 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab... |
OMIM:607317 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Clinodactyly, Large fleshy ears, Myoclonus, Gait ataxia, Tremor, Impaired tactile s... |
OMIM:619092 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... |
OMIM:620296 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c... |
ORPHA:540 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Hearing impairment, Tremor |
OMIM:312910 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... |
OMIM:243700 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... |
OMIM:608647 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Verrucae, Elevated haptoglobin level, Abnormal ... |
OMIM:620632 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ventriculomegaly, Failure to thrive, Large fleshy ears, Inability to walk, Tremor, Cerebellar hyp... |
OMIM:619556 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Brachydactyly, Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive e... |
ORPHA:240103 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Cerebellar atrophy, Incoord... |
OMIM:302800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612926 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... |
ORPHA:401901 |
| Congenital Myopathy 14 |
|
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory insufficiency, Death in childhood, Death in infancy, Neonatal death, Respiratory fail... |
OMIM:620265 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Spasticity, Ventriculomegaly, Cerebral palsy, Aggressive behavior, Hyperactivity, Un... |
OMIM:301107 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... |
OMIM:618090 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Impaired vibratory sensation, Conductive hearing impairment, Sensorineural hearing impairment, Cl... |
OMIM:610738 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:612924 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Spasticity, Broad-based gait, Prominent antihelix, Cerebellar vermis hypoplasia, V... |
OMIM:617807 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Low-set ears, Chorea, Gait ataxia, Self-mutilation, Lower limb spasticity, External tibial torsio... |
OMIM:620445 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:164500 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Nephropathy, Decreased proportion of CD8-positive T cells, Lympho... |
OMIM:301000 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Low-set ears, Failure to thrive, Tremor, Ataxia |
OMIM:618951 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Small hand, Resting tremor, Bruxism, Obe... |
OMIM:300055 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Hearing impairment, Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal py... |
ORPHA:139485 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hematuria, Weight loss, Retrograde ejaculation, Anorexia, Elevated circulating C-reactive protein... |
ORPHA:49041 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor a... |
OMIM:617145 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Vertigo, Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Clinodactyly, Macrotia, Hyperactivity |
OMIM:300928 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia |
ORPHA:90117 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem ... |
OMIM:619028 |
| 4Q21 Microdeletion Syndrome |
|
Low-set ears, Self-injurious behavior, Small hand, Toe syndactyly, Ventriculomegaly, Micromelia, ... |
ORPHA:238750 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... |
OMIM:610910 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... |
OMIM:618093 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Proteinuria, Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Macro... |
ORPHA:251004 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu... |
OMIM:222470 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:603553 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress |
ORPHA:2004 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Hearing impairment, Impaired pain sensation, Tremor, Gait dis... |
ORPHA:101075 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:610127 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Optic Atrophy 11 |
|
Optic atrophy, Ventriculomegaly, Hearing impairment, Stereotypical body rocking, Facial diplegia,... |
OMIM:617302 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramid... |
OMIM:615362 |
| Hyperekplexia 4 |
|
Respiratory failure, Umbilical hernia |
OMIM:618011 |
| Specific Granule Deficiency 2 |
|
Low-set ears, Recurrent pneumonia, Sepsis, Sandal gap, Failure to thrive, Recurrent otitis media,... |
OMIM:617475 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Anteverted ears, Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, T... |
ORPHA:544254 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive cerebellar ataxia, Optic atrophy, Cerebellar atrophy, Hearing impairment, Difficulty ... |
ORPHA:137898 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor |
OMIM:611808 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ata... |
OMIM:618387 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal ... |
ORPHA:33445 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
| Spinocerebellar Ataxia Type 36 |
|
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... |
ORPHA:276198 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... |
ORPHA:276435 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... |
OMIM:611302 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Chorea, Head tre... |
OMIM:620158 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ... |
ORPHA:166002 |
| Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Weight loss, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Amenorrhea, H... |
ORPHA:465508 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Dicarboxylic ac... |
OMIM:212140 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal... |
OMIM:618718 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Cardiomyopathy, Dilated, 2H |
|
Cardiorespiratory arrest, Neonatal death |
OMIM:620203 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... |
ORPHA:174 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Abnormal cerebellum morphology, Tremo... |
OMIM:300957 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Behr Syndrome |
|
Optic atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, G... |
OMIM:210000 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Ventriculomegaly, Sandal gap, Cerebellar vermis atrophy, Gait ataxia, Tremor, Aggress... |
OMIM:300354 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, ... |
ORPHA:84064 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Hip dysp... |
ORPHA:457240 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... |
OMIM:245400 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... |
ORPHA:98762 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Spasticity, Eczematoid dermatitis, Cerebral palsy, Micrognathia, Joint contracture ... |
ORPHA:352490 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic junction obstruc... |
OMIM:154230 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... |
ORPHA:101077 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors |
OMIM:159900 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... |
OMIM:615924 |
| Riboflavin Transporter Deficiency |
|
Progressive hearing impairment, Abnormal cranial nerve morphology, Myoclonus, Tremor, Aggressive ... |
ORPHA:97229 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... |
ORPHA:572 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
ORPHA:221139 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hearing impairment, Hypoplasia of the pons, Difficulty walking, Speech apraxia, Head tremor, Arac... |
ORPHA:412057 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Hearing impairment, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait di... |
ORPHA:101078 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Sensorineural heari... |
OMIM:118300 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Toe syndactyly, Large earlobe, Hip contracture, 2-3 toe syndactyly, Aggressive behavior, Limb und... |
OMIM:616809 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Cyanosis, Pneumothorax, Recu... |
ORPHA:2257 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Recurrent infections, Hearing impairment, Hyperactivity |
OMIM:248510 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... |
ORPHA:254875 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Abnormal heart morphology, Hyperglycemia... |
ORPHA:99886 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Death in infancy |
OMIM:616277 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Ventricular septal defect, Hyposegmentation of neutrophil nuc... |
OMIM:169400 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Broad-based gait, Optic atrophy, Hearing impairment, Generalized dystonia, Fa... |
OMIM:312080 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Congenital hypothyroidism, Cardiomegaly, Obesity |
ORPHA:88643 |
| 7Q31 Microdeletion Syndrome |
|
Low-set ears, Abnormal temper tantrums, Clinodactyly of the 2nd finger, Prominent fingertip pads,... |
ORPHA:251061 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Smith-Magenis Syndrome |
|
Pain insensitivity, Abnormality of the outer ear, Abnormal nerve conduction velocity, Ventriculom... |
OMIM:182290 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia... |
ORPHA:1368 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Ventriculomegaly, Bruxism, Micrognathia, Tremor, Sensorineural hearing impairment, ... |
OMIM:618342 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Abnormal blood gas level, Respiratory failure, Hypoxemia |
ORPHA:70578 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Spasticity, Inferior cerebellar vermis hypoplasia, Cl... |
ORPHA:96148 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Failure to thrive, Micrognathia, Self-mutilation, Hemiparesis, Aggressive behavior, Hyperactivity... |
OMIM:604317 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Respiratory f... |
ORPHA:178320 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Cerebellar atrophy, Hearing impairment, Failure to thrive, Aggressive behavior, Ab... |
ORPHA:369939 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymph... |
OMIM:269920 |
| Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Hearing impairment, Postural tr... |
OMIM:300623 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure |
ORPHA:1832 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystoni... |
OMIM:617916 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Dysphagia, Recurrent respiratory in... |
OMIM:159950 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyper... |
OMIM:614702 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... |
OMIM:614831 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Self-injurious behavior, Short toe, Eczematoid dermatitis, Type E brachydacty... |
OMIM:600430 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... |
OMIM:608233 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Vertigo, Ataxia, Frequent falls |
ORPHA:79136 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Aggressive be... |
ORPHA:329284 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Low-set ears, Spasticity, Prominent fingertip pads, Dysmetria, Babinski sign, Talipes equinovarus... |
OMIM:617773 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial infections, ... |
OMIM:613501 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Ventriculomegaly, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Ab... |
ORPHA:500180 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Aspiration pneumonia, Autonomic bladder dysfunction, Action tremor, Dis... |
ORPHA:99027 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Obesity, Micrognathia, Tremor, Promi... |
ORPHA:480907 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... |
ORPHA:858 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... |
OMIM:617443 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:235400 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Spasticity, Ventriculomegaly, Failure to thrive, Recurrent otitis media, Aggressive behavior, Hyp... |
OMIM:615286 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypoxemia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Respiratory fai... |
ORPHA:36238 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... |
ORPHA:230 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula... |
OMIM:223360 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| 13Q12.3 Microdeletion Syndrome |
|
Atopic dermatitis, Impaired pain sensation, Recurrent respiratory infections, Hearing impairment,... |
ORPHA:412035 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... |
OMIM:600649 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, ... |
OMIM:618917 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Cerebellar atrophy, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myocl... |
ORPHA:79263 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| 48,Xxyy Syndrome |
|
Ventriculomegaly, Abnormal shoulder morphology, Obesity, Tremor, Radioulnar synostosis, Attention... |
ORPHA:10 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:616867 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Fragile X Syndrome |
|
Abnormal head movements, Metacarpophalangeal joint hyperextensibility, Recurrent hand flapping, H... |
OMIM:300624 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... |
ORPHA:98763 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Failure to thrive, Recurrent apht... |
ORPHA:275 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,... |
OMIM:617810 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... |
ORPHA:481 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hallux valgus, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia |
OMIM:615541 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,... |
ORPHA:206443 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Hearing impairment, T... |
ORPHA:99014 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
| Cri-Du-Chat Syndrome |
|
Low-set ears, Optic atrophy, Microretrognathia, Recurrent infections in infancy and early childho... |
OMIM:123450 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem... |
ORPHA:330050 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnorm... |
ORPHA:2631 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... |
OMIM:616795 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Rhizomelia, Hip dislocation, Dumbbell-shaped femur, Conductive h... |
OMIM:156550 |
| 4H Leukodystrophy |
|
Optic atrophy, Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor functio... |
ORPHA:289494 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Cerebellar vermis hypoplasia, Recurrent pneumonia, Dysgenesis of the cerebellar ver... |
OMIM:617751 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Impotence, Abnormal renal physiology |
ORPHA:85447 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, 2-3 toe cutaneous syndactyly, Low-set ears, Recurrent respiratory infections,... |
OMIM:300260 |
| Wolfram Syndrome 1 |
|
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblas... |
OMIM:222300 |
| Gm1 Gangliosidosis |
|
Low-set ears, Spasticity, Aspiration pneumonia, Oral aversion, Weight loss, Ataxia, Unsteady gait... |
ORPHA:354 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Spasticity, Broad-based gait, Ventriculomegaly, Hearing impairment, Aggressive behavior, Hyperact... |
ORPHA:457260 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, ... |
OMIM:616505 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... |
ORPHA:521406 |
| Hypocomplementemic Urticarial Vasculitis |
|
Conjunctivitis, Cerebral palsy, Episcleritis, Skin rash, Hemiplegia/hemiparesis, Sensorineural he... |
ORPHA:36412 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... |
ORPHA:98764 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... |
OMIM:213600 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia, Verrucae |
OMIM:618309 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Failure to thrive in infancy, Renal insufficiency, Cryptorchidism, Hydronephrosi... |
OMIM:611209 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Abnormal cardiac sep... |
OMIM:616737 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Conjunctivitis, Recu... |
OMIM:613493 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Dysphagia, Progress... |
OMIM:183090 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, Inability to walk, Gait... |
OMIM:619580 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Brachydactyly, Short long bone, Microtia |
ORPHA:221054 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Spasticity |
OMIM:607624 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Loss of ambula... |
OMIM:607694 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid dermatitis, Recurrent candi... |
ORPHA:83471 |
| Mody |
|
Nephropathy, Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosu... |
ORPHA:552 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614495 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure |
OMIM:619483 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Recurrent staphylococcal infections, Bronchiectasis, Conductive hearing impair... |
OMIM:615816 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... |
ORPHA:199241 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, Hip dislocation, Cerebellar atrophy, Cerebellar vermis atrophy, Gait a... |
OMIM:614381 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t... |
OMIM:613179 |
| Atelosteogenesis, Type Ii |
|
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath... |
OMIM:256050 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Hyperammonemia, Hepa... |
ORPHA:42 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Recurrent bronchitis, Recurrent sinu... |
OMIM:240500 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
High-frequency hearing impairment, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurre... |
OMIM:300455 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Low-set ears, Spasticity, Sandal gap, Obesity, Motor stereotypy, Aggressive behavior, Hyperactivi... |
OMIM:618430 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Hearing impairment, Genu valgum, Micrognathia, Irregular epiphyses of the metacarpals,... |
OMIM:614078 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Obesity, Abnormality of superior crus of antihelix, Attention deficit hy... |
OMIM:301013 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormal... |
ORPHA:442835 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Limb undergrowth, Ataxia, Communicating hydrocephalus, Abnormal me... |
ORPHA:1861 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Agitation, Clumsiness, Aggressive behavior, Hyperactivity, Hydrocephalu... |
OMIM:300558 |
| Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Cyanosis |
ORPHA:2414 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Respiratory insufficiency |
OMIM:245650 |
| Cockayne Syndrome Type 1 |
|
Male hypogonadism, Failure to thrive, Renal insufficiency, Cryptorchidism, Proteinuria, Hepatomeg... |
ORPHA:90321 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Depression, Stage 5 chronic kidn... |
ORPHA:94059 |
| High Altitude Pulmonary Edema |
|
Pulmonary edema, Hypoxemia, Cyanosis |
ORPHA:330012 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Hearing impairment, Functional abnormality of the middle ear... |
ORPHA:15 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Spasticity, Broad-based gait, Ventriculomegaly, Hearing impairment, Decreased body weight, Aggres... |
OMIM:300958 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... |
ORPHA:206594 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... |
ORPHA:447 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614496 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula... |
OMIM:618838 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ... |
OMIM:301074 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Tremor, Dysmetria, Sensorineural hearing impairment, Oculomotor apraxia, Atax... |
OMIM:614867 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Tremor, Dysmetria, Aggressive behavior, Limb... |
OMIM:617710 |
| Immunodeficiency 55 |
|
Lymphopenia, Myelodysplasia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Ventriculomegaly, Conductive hearing impairment, Failure to thrive, Speech apraxia, Obesity, Micr... |
ORPHA:261197 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons... |
OMIM:619381 |
| Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Self-injurious behavior, Fusion of the cerebellar hem... |
OMIM:601853 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Ventriculomegaly, Facial diplegia, Dysmetria, 2-3 toe syndactyly, Babinski sign, Scissor gait, Mo... |
OMIM:619121 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... |
OMIM:616719 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... |
OMIM:607625 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, P... |
OMIM:619738 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent infections, Recurrent aspiration pneumonia, Ventriculomegaly, Lateral ventricle dilatat... |
ORPHA:79243 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... |
ORPHA:331235 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf... |
ORPHA:60025 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinso... |
OMIM:619725 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Low-set ears, Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor... |
ORPHA:477673 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Slender build, Chorea, Myoclonus, Skin rash, Recurrent hand flapping, Arachnodact... |
OMIM:617600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Hyperprolinemia, Cardiomegaly, Hyperalaninemia, Hepatomegaly |
OMIM:619064 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Lipoid pneumonia, Respiratory failure |
OMIM:620326 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Hemidystonia, Recurrent otitis media, Speech apraxia, Obesity, Recurrent hand flapping, Tremor, A... |
OMIM:619680 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Keratitis, Osteomyelitis, Micrognathia, Tibial bowing, Impaired tactile sensa... |
ORPHA:453510 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Microretrognathia, Obesity, Tremor, Hemiparesis, Sensorineural hear... |
OMIM:619737 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Cerebellar atrophy, Hyperkinetic movements, Aggressive behavior, Hyperac... |
OMIM:271980 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis, Recurrent bacterial infections |
OMIM:613502 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Hearing impairment, Short ... |
ORPHA:628 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... |
ORPHA:3077 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert... |
OMIM:201475 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618986 |
| Neuronal Intranuclear Inclusion Disease |
|
Ventriculomegaly, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor,... |
OMIM:603472 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... |
OMIM:222100 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
| Infantile Neuroaxonal Dystrophy |
|
Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Aspiration pneumonia, Abnormality of perip... |
ORPHA:35069 |
| Ritscher-Schinzel Syndrome 4 |
|
Chorea, Cerebellar hypoplasia, Motor stereotypy, Impulsivity, Aggressive behavior, Mild fetal ven... |
OMIM:619435 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... |
ORPHA:98813 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... |
OMIM:262190 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Chronic sinusitis, Recurrent b... |
OMIM:612692 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia |
OMIM:619473 |
| Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Abnormal cra... |
ORPHA:247234 |
| 2Q23.1 Microdeletion Syndrome |
|
Ataxia, Self-injurious behavior, Sandal gap, Polyphagia, Paroxysmal bursts of laughter, Hyperacti... |
ORPHA:228402 |
| Mannosidosis, Alpha B, Lysosomal |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Femoral bowing, Sensorineural hearing i... |
OMIM:248500 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Metaph... |
ORPHA:239 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Diffuse cerebellar atrophy, Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnorm... |
ORPHA:247815 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Apert Syndrome |
|
Optic atrophy, Ventriculomegaly, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Cond... |
ORPHA:87 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Respiratory failure |
ORPHA:98913 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Dysphagia |
OMIM:128235 |
| Coffin-Siris Syndrome 7 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Chiari type I malformation, Motor stere... |
OMIM:618027 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo... |
OMIM:618049 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Spasticity, Micrognathia, Decreased body weight, Talipes equinovarus, Large hands, Restlessness, ... |
OMIM:300534 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Failure to thrive, Attached earlobe, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Microt... |
OMIM:616977 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Lamb-Shaffer Syndrome |
|
Ataxia, Optic atrophy, Abnormal temper tantrums, Micrognathia, Hyperactivity, Hip dysplasia, Uppe... |
ORPHA:530983 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... |
OMIM:607594 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... |
OMIM:308700 |
| Lethal Kniest-Like Dysplasia |
|
Low-set ears, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog... |
ORPHA:2347 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... |
ORPHA:1170 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Dystonia, Par... |
ORPHA:306669 |
| Jaberi-Elahi Syndrome |
|
Low-set ears, Hand clenching, Broad-based gait, Optic atrophy, Failure to thrive, Inability to wa... |
OMIM:617988 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Respiratory failure |
ORPHA:168486 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... |
ORPHA:397946 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... |
ORPHA:860 |
| Huntington Disease-Like 3 |
|
Spasticity, Broad-based gait, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... |
ORPHA:157946 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:605711 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyra... |
OMIM:615673 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Low-set ears, Small hand, Sandal gap, Clinodactyly, Obesity, Hyperactivity, Recurrent infections,... |
OMIM:618089 |
| Avian Influenza |
|
Pneumonia, Pleural effusion, Pneumothorax, Respiratory failure, Hypoxemia, Miscarriage |
ORPHA:454836 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Optic atrophy, Small hand, Failure to thrive, Upper limb undergrowth, Micrognathia, Tremor, Ponto... |
OMIM:608799 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... |
OMIM:618886 |
| Spinocerebellar Ataxia Type 42 |
|
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Vertigo, Cerebellar vermis atroph... |
ORPHA:458803 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Ventriculomegaly, Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve c... |
OMIM:218000 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Pneumothorax, Cyanosis |
ORPHA:1302 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Self-injurious behavior, Sandal gap, Micrognathia, Overfolded helix, Tremor, ... |
OMIM:617061 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habi... |
OMIM:308750 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure |
OMIM:614922 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr... |
OMIM:313200 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Failure to ... |
ORPHA:1842 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Low-set ears, Spasticity, Hearing impairment, Oral-pharyngeal dysphagia, Talipes cavus equinovaru... |
OMIM:300966 |
| Tay-Sachs Disease |
|
Hearing impairment, Aspiration pneumonia, Incoordination, Dysphagia, Poor fine motor coordination... |
ORPHA:845 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Gait ataxia, Self-mutilation, Cerebel... |
OMIM:300486 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... |
OMIM:613779 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Small hand, Lateral ventricle dilatation, Decreased body weight, Ataxia, Recurrent lo... |
OMIM:619229 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Tibial torsion, Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fi... |
ORPHA:36387 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Slender finger, Inferior cerebellar vermis hypoplasia, Bruxism, Recurrent hand flapping, Hyperact... |
OMIM:613192 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Hyperammo... |
OMIM:620609 |
| Dpm1-Cdg |
|
Optic atrophy, Spasticity, Ventriculomegaly, Cerebellar atrophy, Sandal gap, Failure to thrive, L... |
ORPHA:79322 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,... |
OMIM:261640 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Cerebral palsy, Preaxial polydactyly, Cerebellar vermis atrophy, Obesit... |
ORPHA:163681 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Upper limb undergrowth, Ge... |
ORPHA:93351 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... |
OMIM:616329 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive |
OMIM:614096 |
| Ogden Syndrome |
|
Low-set ears, Shuffling gait, Microretrognathia, Abnormal head movements, Broad hallux, Ventricul... |
ORPHA:276432 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... |
ORPHA:99931 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Respiratory failure, Pleural empyema |
ORPHA:449280 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Spastic paraparesis, Clinodactyly, Hearing impairment, Incoordination, Agitation, O... |
ORPHA:369891 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Cerebellar atrophy, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behavio... |
OMIM:300894 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dyst... |
OMIM:612438 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure ... |
ORPHA:555874 |
| Leigh Syndrome, Nuclear |
|
Respiratory failure, Respiratory insufficiency |
OMIM:256000 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Paroxysmal bursts of lau... |
ORPHA:391428 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Decreased body mass index, Failure to thrive, Tremor, Arachnodactyly, Attention deficit hyperacti... |
ORPHA:370079 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal tubular acidosis, Hyperammonemi... |
OMIM:255120 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Adenylosuccinase Deficiency |
|
Low-set ears, Spasticity, Cerebellar atrophy, Inability to walk, Hemiplegia, Inappropriate laught... |
OMIM:103050 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, Micrognathia,... |
ORPHA:1427 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Low-set ears, Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb short... |
OMIM:151210 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unstead... |
OMIM:615516 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
| Radio-Tartaglia Syndrome |
|
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Obesity, Microgna... |
OMIM:619312 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressi... |
ORPHA:254881 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Respiratory failure |
ORPHA:444013 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection... |
ORPHA:244 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Septic arthritis, Recurrent enteroviral infections, Hearing impairment, Conjunctivitis... |
OMIM:307200 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
| Fg Syndrome 3 |
|
Broad thumb, Broad hallux, Sensorineural hearing impairment, Chiari type I malformation, Hyperact... |
OMIM:300406 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Cupped ear, Sandal gap, Cerebral palsy, Lateral ventricle dilatation, Mi... |
OMIM:618914 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:606693 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... |
OMIM:608957 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... |
ORPHA:79124 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... |
OMIM:128100 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Ollier Disease |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Micromelia, Abnormal cartilage morphology |
ORPHA:296 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Crumpled ear, Clinodactyly, Hearing impairment, Motor stereotypy, Self-injurious behavior, Sympha... |
OMIM:620494 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... |
OMIM:612736 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit... |
OMIM:252920 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor... |
ORPHA:529665 |
| X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Progressive hearing... |
ORPHA:43 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Ventriculomegaly, Flared metaphysis, Large fleshy ears, Decreased fibular diameter,... |
OMIM:616897 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Gait disturbance, Limb undergrow... |
ORPHA:1803 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineural heari... |
OMIM:304700 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit... |
ORPHA:228308 |
| Nipah Virus Disease |
|
Vertigo, Anorexia, Myoclonus, Tremor, Infectious encephalitis, Recurrent pharyngitis |
ORPHA:99825 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Tremor, Abnormality of extra... |
OMIM:614298 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... |
ORPHA:314632 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Optic atrophy, Hearing impairment, Recurrent otitis media, Calcif... |
ORPHA:85202 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Emotional lability, Glomerular sclerosis, Increase... |
OMIM:223900 |
| Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive... |
OMIM:137440 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis |
ORPHA:747 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Clinodactyly, Failure to thrive, Congenital sensorin... |
ORPHA:73272 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Abnor... |
OMIM:618060 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
2-3 toe cutaneous syndactyly, Cerebellar vermis hypoplasia, Failure to thrive, Aggressive behavio... |
OMIM:620242 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Chiari type I malformation, Ataxia, Dystonia |
OMIM:617836 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... |
OMIM:208920 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Cyanosis, Cervical myelopathy, Spina bifida |
OMIM:207950 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Clinodactyly, Failure to thrive, Neutrophilic infiltration of the ski... |
OMIM:618048 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Sensorineural hearing impairment, Aplasia/Hypoplasia of the cerebellum, Gait disturbance,... |
ORPHA:1192 |
| Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy, Ventriculomegaly, Failure to thrive, Hypoplastic vertebral bodies, Limb undergrowt... |
OMIM:230600 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Ventriculomegaly, Micromelia, Flared metaphys... |
OMIM:187601 |
| Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure |
ORPHA:75840 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Micromelia, Heari... |
ORPHA:1508 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure |
OMIM:312170 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation |
OMIM:619405 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis |
ORPHA:60041 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements, Ataxia, Dyst... |
OMIM:245348 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Distal Deletion 17Q |
|
Optic atrophy, Small hand, Deviation of finger, Micromelia, Low-set, posteriorly rotated ears, Ab... |
ORPHA:1597 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Spasticity, Recurrent pneumonia, Optic atrophy, Fractures of the long... |
ORPHA:496641 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
| Chromosome Xq13 Duplication Syndrome |
|
Recurrent otitis media, Finger joint hypermobility, Talipes equinovarus, Attention deficit hypera... |
OMIM:301069 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Small hand, Sandal gap, Abnormal earlobe morphology, Camptodact... |
ORPHA:85293 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... |
OMIM:256550 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Shortening of all phalanges of fingers, Limb undergrowth,... |
OMIM:601356 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Unilateral radial aplasia, Failure to thrive, Micrognathia, Gait ataxia, Partial absence of thumb... |
ORPHA:476126 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecularization, Camptodactyly o... |
ORPHA:2635 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia |
OMIM:602088 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure |
ORPHA:542323 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventric... |
ORPHA:572798 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Postaxial polydac... |
OMIM:617102 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Low-set ears, Small hand, Ventriculomegaly, Micrognathia, Recurrent bacterial infections, Short f... |
OMIM:241410 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Dysphagia, Ch... |
OMIM:617664 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Bowing of the legs, Limb undergrowth, Waddling gait |
ORPHA:156728 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Macrovesicular hepatic steatosis, Polycystic kid... |
OMIM:608836 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Chorea, Gait ataxia, Intention tremor, Dysmetria, ... |
OMIM:610217 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Clinodactyly, Ataxia |
OMIM:603585 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shorten... |
OMIM:300863 |
| Thanatophoric Dysplasia |
|
Low-set ears, Abnormal ilium morphology, Ventriculomegaly, Micromelia, Hearing impairment, Abnorm... |
ORPHA:2655 |
| Slc39A8-Cdg |
|
Recurrent infections, Low-set ears, Ventriculomegaly, Cutaneous syndactyly of toes, Cerebellar at... |
ORPHA:468699 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
| Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal, Ove... |
OMIM:601808 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... |
ORPHA:911 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Joubert Syndrome 1 |
|
Low-set ears, Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Dysgenesis of the cerebel... |
OMIM:213300 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Hypoplastic ... |
OMIM:608728 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure |
ORPHA:2254 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Failure to thrive, Pica, Stereotypical body rocking, Talipes equinovarus, Tongu... |
OMIM:617865 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... |
OMIM:618056 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ventriculomegaly, Clinodactyly, Cerebellar vermis atrophy, Dysmetria, Sensorine... |
OMIM:616541 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,... |
OMIM:601005 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Total anomalous pulmonary venous return, Abnormal heart morphology, Ab... |
ORPHA:487796 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure |
ORPHA:3226 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Snakebite Envenomation |
|
Erythema, Respiratory failure, Angioedema, Ecchymosis |
ORPHA:449285 |
| 19P13.12 Microdeletion Syndrome |
|
Toe clinodactyly, Low-set ears, Self-injurious behavior, Ventriculomegaly, Conductive hearing imp... |
ORPHA:254346 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Spasticity, Spastic paraparesis, Cerebral palsy, Recurrent respiratory infections, Abnormal centr... |
ORPHA:760 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dysto... |
OMIM:617013 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, Low-set ears, Prominent fingertip pads, Failure to thrive, Large earlobe, Clino... |
ORPHA:485405 |
| Intellectual Disability-Strabismus Syndrome |
|
Low-set ears, Spasticity, Hearing impairment, Failure to thrive, Recurrent otitis media, Microgna... |
ORPHA:363528 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hip osteoarthritis, Hypoplasia of the odontoid process, Finger swelling, Ost... |
ORPHA:93284 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Respiratory failure |
OMIM:250940 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megal... |
OMIM:300322 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Micromelia, Hearing impairment, Delayed pubic bone ossification, Short ribs, De... |
ORPHA:93296 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Hearing impairment, Incoordination, Speech apraxia, Abnormal cranial nerve... |
ORPHA:297 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, F... |
ORPHA:99750 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... |
OMIM:300280 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Immunodeficiency 12 |
|
Recurrent viral infections, Bronchiectasis, Recurrent aphthous stomatitis, Skin rash, Decreased b... |
OMIM:615468 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibratory sensation, Sensorineural hearing impairment, Babinski sign... |
OMIM:609727 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, ... |
OMIM:606002 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macroscopic hematuria, Impaired ristoce... |
ORPHA:274 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Low-set ears, Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femor... |
OMIM:613320 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereot... |
OMIM:300912 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Brain-Lung-Thyroid Syndrome |
|
Involuntary movements, Recurrent pneumonia, Falls, Failure to thrive, Incoordination, Chorea, Abn... |
ORPHA:209905 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia |
OMIM:616176 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone |
ORPHA:1423 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progr... |
OMIM:608768 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... |
OMIM:619574 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... |
ORPHA:53351 |
| White-Sutton Syndrome |
|
Low-set ears, Abnormality of the outer ear, Self-injurious behavior, Broad thumb, Hypoplastic cer... |
OMIM:616364 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptoc... |
OMIM:618278 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure |
OMIM:606612 |
| Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
| Atelosteogenesis Type Ii |
|
Low-set ears, Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Broad phalanx, Bilateral... |
ORPHA:56304 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Spasticity, Cerebellar vermis hypoplasia, Ventriculomegaly, Macrotia, Myoclonus, H... |
OMIM:617281 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxia,... |
OMIM:620141 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Acromesomelia, Low-set ears, Self-injurious behavior, Clinodactyly, Recurrent otitis media, Failu... |
ORPHA:261323 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Ventriculomegaly, Abnormal epiphysis morphology... |
ORPHA:2637 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Hearing impairment, Paraplegia, Limb ataxia, Positive Romberg si... |
OMIM:105210 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Spasticity, Hearing impairment, Aspiration pneumonia, Genu valgum, Sensorineu... |
ORPHA:581 |
| Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel... |
ORPHA:420741 |
| Odontochondrodysplasia 1 |
|
Mesomelia, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epiphyses of the pha... |
OMIM:184260 |
| Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Cachexia, Acute infectious pneumonia, Clubbing, Rec... |
ORPHA:60033 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Failure to thrive, Sensorineural hearing impairment, Seborrheic dermatitis... |
OMIM:619693 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ... |
OMIM:615512 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Death in childhood |
OMIM:615838 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Atelosteogenesis, Type I |
|
Low-set ears, Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinovarus, ... |
OMIM:108720 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Limb myoclonus, Hearing impairment, Difficulty walking, Inability to walk, Dysmetria, Hemiparesis... |
ORPHA:139396 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Respiratory failure |
ORPHA:2759 |
| Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Radial club hand, Aspiration pneumonia, Paraplegia, O... |
OMIM:617053 |
| Gabriele-De Vries Syndrome |
|
Low-set ears, Tip-toe gait, Sandal gap, Lateral ventricle dilatation, Micrognathia, Tremor, Dysto... |
OMIM:617557 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... |
ORPHA:169090 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Purple urine, Increased urinary porphob... |
ORPHA:100924 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Ventriculomegaly, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral p... |
ORPHA:765 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Ventilator dependence with inability to wean, Respiratory failure |
OMIM:604320 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Sensorineural hearing... |
ORPHA:440354 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne... |
ORPHA:95430 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Low-set ears, Hypoplastic ilia, Micromelia, Clubbing of fingers, Broad long bones, Micrognathia, ... |
ORPHA:1865 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Small for gestational age, Conductive hearing impairment, Keratitis, Failure... |
ORPHA:99843 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Atresia of the external ... |
ORPHA:3429 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Occipital encephalocele, Cyanosis, Pneumothorax, Pulmonary hypoplasia |
OMIM:619879 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... |
OMIM:608184 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Or... |
ORPHA:134 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Ventriculomegaly, Micromelia, Hearing impairment, Femoral bowing, Bowing of the... |
ORPHA:1860 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Hearing impairment, Abnormal t... |
ORPHA:2496 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Broad thumb, Sepsis, Clinodactyly, Hearing impairme... |
OMIM:612541 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Spasticity, Spastic paraparesis, Hearing impairment, Decreased nerve conduction velocity, Short-s... |
OMIM:609136 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia |
OMIM:619437 |
| Acrodysostosis |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Micromelia, Abnormal diaphysi... |
ORPHA:950 |
| ERI1-related disease |
|
Low-set ears, Small for gestational age, Conductive hearing impairment, Failure to thrive, Slende... |
OMIM:608739 |
| Joubert Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Tremor, Aganglionic megacolon, Hand polydactyly, Ocul... |
ORPHA:475 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
2-3 toe cutaneous syndactyly, Microretrognathia, Cutaneous syndactyly of toes, Contracture of the... |
OMIM:300998 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Episodic ataxia, Vertigo, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tr... |
OMIM:602481 |
| X-Linked Creatine Transporter Deficiency |
|
Chorea, Self-mutilation, Aganglionic megacolon, Cachexia, Hyperactivity, Hypertonia, Ataxia, Dyst... |
ORPHA:52503 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure |
OMIM:603689 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| 48,Xxxy Syndrome |
|
Hip dislocation, Abnormal epiphysis morphology, Obesity, Tremor, Down-sloping shoulders, Talipes ... |
ORPHA:96263 |
| Perry Syndrome |
|
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disin... |
OMIM:168605 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Obesity, Gait imbalance, Myoclonus, Abnormal eating behavior, Tremor, Inappropr... |
ORPHA:98794 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Recurrent pneumonia, Sepsis, Inflammation of the large intestine, ... |
OMIM:614700 |
| Chédiak-Higashi Syndrome |
|
Spastic paraplegia, Recurrent staphylococcal infections, Periodontitis, Somatic sensory dysfuncti... |
ORPHA:167 |
| Seckel Syndrome 1 |
|
Low-set ears, Ivory epiphyses, Hip dislocation, Cerebellar vermis hypoplasia, Sandal gap, Hypopla... |
OMIM:210600 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema |
ORPHA:2038 |
| Mucopolysaccharidosis, Type Iiid |
|
Low-set ears, Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Cerebellar atro... |
OMIM:252940 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... |
OMIM:300539 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure |
OMIM:618233 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atelectasis |
ORPHA:896 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Tremor, Aganglionic megacolon, H... |
ORPHA:220497 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... |
OMIM:618877 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... |
ORPHA:240071 |
| Autosomal Recessive Omodysplasia |
|
Low-set ears, Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Posteriorly rotate... |
ORPHA:93329 |
| 47,Xyy Syndrome |
|
Low-set ears, Dysgenesis of the cerebellar vermis, Finger clinodactyly, Cerebellar dysplasia, Att... |
ORPHA:8 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Asparagine Synthetase Deficiency |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, ... |
OMIM:615574 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Generalized dystonia, Sensorineural hearing impairment, Femoral... |
ORPHA:79107 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Low-set ears, Microretrognathia, Toe syndactyly, Impaired pain sensation, Hearing impairment, Cam... |
ORPHA:261211 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Recurrent in... |
ORPHA:486 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenit... |
ORPHA:51636 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice |
ORPHA:615 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis |
ORPHA:335 |
| Cinca Syndrome |
|
Progressive sensorineural hearing impairment, Hearing impairment, Skin rash, Papilledema, Arthrit... |
OMIM:607115 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hearing impairment, Difficulty walking, Impaired tactile sensation, Flexion contracture of finger... |
ORPHA:466768 |
| Stankiewicz-Isidor Syndrome |
|
Low-set ears, Absent thumb, Short thumb, Hearing impairment, Micrognathia, 2-3 toe syndactyly, Ab... |
OMIM:617516 |
| Multiple Osteochondromas |
|
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor... |
ORPHA:321 |
| Rauch-Steindl Syndrome |
|
Failure to thrive, Prominent crus of helix, Micrognathia, Protruding ear, Attached earlobe, Aggre... |
OMIM:619695 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Glutamine Deficiency, Congenital |
|
Low-set ears, Micromelia, Lateral ventricle dilatation, Neonatal death, Camptodactyly, Recurrent ... |
OMIM:610015 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Hearing impairment, Difficulty walking, Micrognathia, Dysmetria, Tre... |
ORPHA:502423 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low-set ears, Hypoplasia of the pons, Micrognathia, Sensorineural hearing impairment, Bilateral t... |
OMIM:619512 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hypoglycemia, Hepatic steatosis, Ven... |
OMIM:614921 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Hepatitis, Failure to thrive, Enteroviral encephalitis, S... |
OMIM:308230 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Low-set ears, Self-injurious behavior, Dilated third ventricle, Head-banging, Failure to thrive, ... |
OMIM:619575 |
| Platyspondylic Dysplasia, Torrance Type |
|
Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromel... |
ORPHA:85166 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Micrognathia, Dysmetria, ... |
OMIM:617675 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Cinca Syndrome |
|
Hearing impairment, Pseudopapilledema, Sensorineural hearing impairment, Brachydactyly, Inflammat... |
ORPHA:1451 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Limb undergrowth, Spina bifida o... |
ORPHA:177 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... |
OMIM:612783 |
| Muckle-Wells Syndrome |
|
Optic atrophy, Progressive sensorineural hearing impairment, Camptodactyly of finger, Recurrent a... |
ORPHA:575 |
| Hyperlysinemia |
|
Hypoplastic helices, Poor motor coordination, Recurrent pneumonia, Hypoplasia of the antihelix, T... |
ORPHA:2203 |
| Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Weight loss, Glomerulonephritis, Anorexia, Recurrent mycoba... |
ORPHA:48435 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Short distal phalanx of finger, Spasticity, Hypoplastic ilia, Ventriculomegaly, Hepati... |
ORPHA:1855 |
| 49,Xxxxy Syndrome |
|
Hip dislocation, Abnormal epiphysis morphology, Tremor, Down-sloping shoulders, Overfriendliness,... |
ORPHA:96264 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ... |
OMIM:610984 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Congenital Myopathy 10B, Mild Variant |
|
Recurrent pneumonia, Respiratory failure |
OMIM:620249 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Tremor, Aganglionic megacolon, H... |
ORPHA:220493 |
| Cockayne Syndrome Type 2 |
|
Hearing impairment, Difficulty walking, Lower limb spasticity, Gait disturbance, Limb hypertonia,... |
ORPHA:90322 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi... |
OMIM:618961 |
| Boutonneuse Fever |
|
Petechiae, Respiratory failure |
ORPHA:83313 |
| Angelman Syndrome |
|
Self-injurious behavior, Optic atrophy, Broad-based gait, Inability to walk, Obesity, Inappropria... |
ORPHA:72 |
| Insulin-Like Growth Factor I Deficiency |
|
Micrognathia, Decreased body weight, Sensorineural hearing impairment, Hyperactivity, Clinodactyl... |
OMIM:608747 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Ventriculomegaly, Vertigo, Chorea, Limb dystonia, Communicating hydrocep... |
ORPHA:25 |
| Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing impairment, Bowing of the l... |
OMIM:616229 |
| Choreoacanthocytosis |
|
Resting tremor, Lateral ventricle dilatation, Limb dystonia, Hair-pulling, Loss of ambulation, Pa... |
ORPHA:2388 |
| Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Cranial nerve compression, Tremor, Weight loss, Paroxysmal vertigo... |
ORPHA:94080 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Glomerulonephritis |
OMIM:613496 |
| Whipple Disease |
|
Uveitis, Polydipsia, Anorexia, Myoclonus, Infectious encephalitis, Myositis, Cachexia, Abnormal p... |
ORPHA:3452 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cervical myelopathy, Myelopathy, Respiratory failure, Death in childhood |
OMIM:617186 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Finger jo... |
OMIM:620663 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:616873 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Neonatal respiratory distress, Cyanosis, Death in infancy, Death in childhood, Recurrent lower re... |
OMIM:618426 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Myoclonus, Tremor, Sensorineural hearing impairment, Loss of ambulation, Righ... |
OMIM:607426 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Difficulty walking, Fibular aplasia, Genu valgum,... |
ORPHA:93323 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... |
ORPHA:352649 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes... |
ORPHA:70 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... |
OMIM:617044 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia |
OMIM:160900 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff... |
ORPHA:590 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Spasticity, Broad-based gait, Hearing impairment, Genu valgum, Decreased body weight, Progressive... |
OMIM:619475 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff... |
ORPHA:98914 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Vertigo, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia, Dysphagia... |
ORPHA:683 |
| Epilepsy With Eyelid Myoclonia |
|
Abnormal head movements, Limb myoclonus |
ORPHA:139431 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Failure to thrive, Overlapping t... |
ORPHA:401973 |
| Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Slender long bone, Recurrent bacterial infections, Short foot, Short palm |
OMIM:244460 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory failure |
OMIM:620166 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dumbbel... |
ORPHA:485 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| 7Q11.23 Microduplication Syndrome |
|
Hearing impairment, Abnormal earlobe morphology, Micrognathia, Abnormal optic disc morphology, Po... |
ORPHA:96121 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... |
ORPHA:98773 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w... |
ORPHA:308552 |
| Complement Factor B Deficiency |
|
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... |
OMIM:219090 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections, Respiratory failure |
ORPHA:98905 |
| Vici Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Recurrent viral infections, Chronic mucocutaneous can... |
OMIM:242840 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent viral infections, Eczematoid dermatitis, Failure to ... |
OMIM:606367 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia |
ORPHA:3309 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph... |
OMIM:266500 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,... |
ORPHA:2639 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Shwachman-Diamond Syndrome |
|
Pneumonia, Abnormality of the outer ear, Recurrent viral infections, Sepsis, Proximal femoral epi... |
ORPHA:811 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Conductive hearing impairment, Failure to thrive, Finger clinodacty... |
ORPHA:2754 |
| C Syndrome |
|
Low-set ears, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly... |
OMIM:211750 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir... |
OMIM:615954 |
| Specific Granule Deficiency 1 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:245480 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Respiratory insufficiency |
ORPHA:159 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Rhizomelia, Recurrent pneumonia, Cerebellar atrophy, Micrognathia, Myoclonus, Tremor,... |
OMIM:616271 |
| Developmental And Epileptic Encephalopathy 89 |
|
Low-set ears, Spasticity, Microretrognathia, Cerebellar atrophy, Tetraparesis, Asymmetry of the e... |
OMIM:619124 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren... |
OMIM:130650 |
| Cousin Syndrome |
|
Low-set ears, Hypoplastic scapulae, Hearing impairment, Hypoplastic iliac wing, Dislocation of th... |
OMIM:260660 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Low-set ears, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Brachydactyly, Metaphys... |
OMIM:612813 |
| Dpagt1-Cdg |
|
Optic atrophy, Head-banging, Clinodactyly, Hearing impairment, Failure to thrive, Inability to wa... |
ORPHA:86309 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Recurrent otitis media,... |
OMIM:601495 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular atrophy |
OMIM:618165 |
| Mogs-Cdg |
|
External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypo... |
ORPHA:79330 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
| Kinsship Syndrome |
|
Low-set ears, Ventriculomegaly, Failure to thrive, Dislocated radial head, Bruxism, Micrognathia,... |
OMIM:619297 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Failure to thrive, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Sp... |
OMIM:620376 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Brain abscess, Hearing impairment, Recurrent otitis media, Femoral bowing, Tibial bow... |
OMIM:616482 |
| Transketolase Deficiency |
|
Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Seborrheic... |
ORPHA:488618 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... |
ORPHA:2688 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:310200 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventriculomegaly, Toe syndactyly, Small for gestational age, Eczematoid dermatitis, Failure to th... |
ORPHA:464306 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Abnormal pleura morphology, Cutis... |
ORPHA:183 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Advanced tarsal ossification, Short ribs, Limb undergrowth, Dumbbell-shaped... |
OMIM:269250 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Growth arrest lines, Recurrent viral infections, Recurrent pneumonia, Chronic mucocuta... |
OMIM:102700 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... |
OMIM:612953 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Respiratory insufficiency |
OMIM:617239 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... |
ORPHA:449291 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremi... |
ORPHA:391673 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Patent urachus, Respiratory failure, Death in childhood |
OMIM:618252 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Anorexia,... |
ORPHA:3008 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Alexander Disease |
|
Self-injurious behavior, Spasticity, Failure to thrive, Chorea, Tremor, Infectious encephalitis, ... |
ORPHA:58 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, S... |
ORPHA:447753 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti... |
OMIM:239850 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... |
OMIM:305400 |
| Fucosidosis |
|
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Mucopolysacchari... |
ORPHA:349 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Sensorineural hearing impairment, Babinski sig... |
OMIM:618527 |
| Acromesomelic Dysplasia 4 |
|
Low-set ears, Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Promi... |
OMIM:619636 |
| Niemann-Pick Disease Type C |
|
Hearing impairment, Aspiration pneumonia, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal... |
ORPHA:646 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Chylothorax, Respiratory failure, Death in childhood |
OMIM:620278 |
| Mercury Poisoning |
|
Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... |
OMIM:219800 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Hearing impairment, Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact... |
ORPHA:3258 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
2-3 toe cutaneous syndactyly, Low-set ears, Broad-based gait, Hand tremor, 2-4 toe cutaneous synd... |
OMIM:614756 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness |
OMIM:220110 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Ventriculomegaly, Failure to thrive, Recurrent otitis media, Stereotypical body... |
ORPHA:513456 |
| Infantile Systemic Hyalinosis |
|
Micromelia, Failure to thrive, Camptodactyly of finger, Brachydactyly, Recurrent bacterial infect... |
ORPHA:2176 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Esophagitis, T... |
OMIM:615356 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Micromelia, Finger syndactyly, Low-set, posteriorly rotated ears, Micrognathia, Aplasia/Hypoplasi... |
ORPHA:1908 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing impairment, Fasciculations, Tr... |
OMIM:620327 |
| Incontinentia Pigmenti |
|
Spasticity, Deviation of finger, Finger syndactyly, Keratitis, Camptodactyly of finger, Abnormal ... |
ORPHA:464 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Respiratory failure |
ORPHA:445038 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykines... |
OMIM:234200 |
| Legius Syndrome |
|
Hearing impairment, Vestibular schwannoma, Polydactyly, Chiari type I malformation, Attention def... |
ORPHA:137605 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Decreased motor nerve conduction velocity, Anorexia, Cogwheel rigidity, Myoc... |
ORPHA:79139 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Eczematoid dermatitis, Ectrodactyly, Camptodactyly of finger, Oligodactyly, Recurrent ... |
ORPHA:2273 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Metachromatic Leukodystrophy |
|
Addictive behavior, Tip-toe gait, Hearing impairment, Incoordination, Decreased nerve conduction ... |
ORPHA:512 |
| Atelosteogenesis Type I |
|
Low-set ears, Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossificat... |
ORPHA:1190 |
| Young-Onset Parkinson Disease |
|
Spasticity, Gait imbalance, Restless legs, Tremor, Rigidity, Dystonia, Impulsivity, Abnormal auto... |
ORPHA:2828 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Visceromegaly, ... |
ORPHA:116 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... |
OMIM:611584 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... |
OMIM:203800 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chorea... |
ORPHA:2131 |
| Joubert Syndrome With Hepatic Defect |
|
Ataxia, Low-set ears, Cerebellar vermis hypoplasia, Optic disc coloboma, Tremor, Oculomotor aprax... |
ORPHA:1454 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Hearing impairment, Failure to thrive, Cogwheel rigidity, Gai... |
ORPHA:254892 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Low-set ears, Self-injurious behavior, Broad hallux, Sandal gap, Hearing impairment, Cutaneous fi... |
OMIM:616078 |
| Microcephaly-Micromelia Syndrome |
|
Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... |
OMIM:251230 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:3426 |
| Mend Syndrome |
|
Low-set ears, Microretrognathia, Broad hallux, Failure to thrive, Overlapping toe, Micrognathia, ... |
OMIM:300960 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly, Thrombocytop... |
OMIM:608013 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal head movements, Cerebellar edema, Infectious encephalitis |
ORPHA:363558 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, A... |
ORPHA:14 |
| Distal Duplication 17Q |
|
Rhizomelia, Low-set, posteriorly rotated ears, Overlapping toe, Genu valgum, Micrognathia, Arachn... |
ORPHA:3379 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Purpura, Urticaria |
ORPHA:343 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Decreased nerve conduction velocity, Tremor, Recurrent systemic pyogenic infection... |
OMIM:214500 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary va... |
ORPHA:3427 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Respiratory failure |
ORPHA:3240 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Low-set ears, Short distal phalanx of finger, Spasticity, Abnormal ilium morphology, Cupped ear, ... |
OMIM:614080 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Failure to thrive, Olivopontocerebellar hypopla... |
OMIM:212065 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal ... |
OMIM:168600 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... |
OMIM:620306 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Micrognathia, Neonatal death, Bowing of the long bones, Talipes equinovarus, Short lo... |
OMIM:224410 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Abnormal crani... |
ORPHA:138 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit... |
ORPHA:48818 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Painless fractures due to injury, Difficulty walking, Distal sensory impairment, Orthostatic hypo... |
ORPHA:642 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory i... |
ORPHA:99956 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... |
OMIM:602557 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy |
OMIM:617478 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... |
OMIM:609812 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... |
OMIM:616749 |
| Greenberg Dysplasia |
|
Low-set ears, Fractured rib, Postaxial foot polydactyly, Micrognathia, Neonatal death, Diaphyseal... |
OMIM:215140 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Large placenta, Respiratory failure, Umbilical hernia |
ORPHA:254528 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... |
ORPHA:99050 |
| Congenital Tracheal Stenosis |
|
Neonatal asphyxia, Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascendi... |
ORPHA:141127 |
| Osteogenesis Imperfecta, Type Ii |
|
Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb undergrowth, Small ... |
OMIM:166210 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiorespiratory arrest, Respiratory failure |
ORPHA:26791 |
| Osteoglophonic Dysplasia |
|
Low-set ears, Hypoplastic scapulae, Broad thumb, Rhizomelia, Short thumb, Failure to thrive, Camp... |
OMIM:166250 |
| Congenital Syphilis |
|
Pneumonia, Optic atrophy, Keratitis, Hearing impairment, Tibial bowing, Synovitis, Pancreatitis, ... |
ORPHA:499009 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Small hand, Lateral ventricle dilatation, Genu valgum, Polyphagia, Motor stereotypy... |
OMIM:615873 |
| Endocrine-Cerebroosteodysplasia |
|
Low-set ears, Ventriculomegaly, Sandal gap, Micromelia, Preaxial polydactyly, Micrognathia, Fibul... |
OMIM:612651 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Depression, Ventricular septal defect |
OMIM:618798 |
| Early Infantile Epileptic Encephalopathy |
|
Self-injurious behavior, Spasticity, Cerebellar atrophy, Failure to thrive, Episodic ataxia, Shor... |
ORPHA:1934 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph... |
ORPHA:93352 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne... |
ORPHA:2020 |
| Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Short ribs, Neona... |
OMIM:269860 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Small hand, Microretrognathia, Proportionate shortening of all digits, Athetosis, Blepharitis, La... |
ORPHA:280633 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczematoid dermatitis |
OMIM:300299 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Low-set ears, Optic atrophy, Small hand, Ventriculomegaly, Cupped ear, Clinodactyly, Hearing impa... |
OMIM:309590 |
| Hall-Riggs Syndrome |
|
Abnormal epiphysis morphology, Failure to thrive, Limb undergrowth, Brachydactyly, Abnormal metap... |
ORPHA:2107 |
| Listeriosis |
|
Arteritis, Hearing impairment, Hemiparesis, Pustule, Ataxia, Meningitis, Endocarditis, Unusual CN... |
ORPHA:533 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref... |
OMIM:607876 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
| Achondrogenesis, Type Ia |
|
Low-set ears, Hypoplastic scapulae, Hypoplastic sacrum, Abnormal femoral metaphysis morphology, S... |
OMIM:200600 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... |
ORPHA:1422 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection, Respiratory failure, Hypercapnia, Respiratory failure req... |
ORPHA:79138 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure |
ORPHA:2707 |
| Monosomy 22Q13.3 |
|
Impaired pain sensation, Hearing impairment, Bruxism, Obesity, Recurrent pyelonephritis, Hair-pul... |
ORPHA:48652 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide level, Cardiomegal... |
OMIM:268800 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Pleural effusion, Respiratory failure |
ORPHA:679 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure |
OMIM:617248 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Respiratory insufficiency, Intercostal muscle weakness, Recurrent lower respiratory ... |
ORPHA:258 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Broad thumb, Low-set, posteriorly rotated ears, Brachydactyly, Posteriorly rotated ea... |
ORPHA:171866 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:610505 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping... |
OMIM:270400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:252010 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Depression, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Card... |
OMIM:619259 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, EBV meningitis, EBV encephalitis, Severe varicella zoster infection,... |
OMIM:615122 |
| Cornelia De Lange Syndrome 1 |
|
Low-set ears, Micrognathia, Sensorineural hearing impairment, Dislocated radial head, Self-injuri... |
OMIM:122470 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
| Goodpasture Syndrome |
|
Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Proteinuria, Weight loss, Glomerulonep... |
OMIM:233450 |
| Fibrochondrogenesis |
|
Low-set ears, Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... |
ORPHA:2021 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Low-set ears, Delayed epiphyseal ossification, Lateral ventricle dilatation,... |
OMIM:210710 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Rhizomelia, Chiari malformation, Eczematoid dermatitis, Irregular epiphyses, D... |
OMIM:618162 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... |
OMIM:300855 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Low-set ears, Hair-pulling, Protruding ear, Motor stereotypy, Lower limb spasticity, Clonus, Hype... |
ORPHA:447997 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Sepsis In Premature Infants |
|
Jaundice, Petechiae, Purpura, Cyanosis |
ORPHA:90051 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Radio-Renal Syndrome |
|
Chylothorax, Pleural effusion, Respiratory failure |
ORPHA:3015 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
| Oculodentodigital Dysplasia |
|
Spasticity, Hip dislocation, Conductive hearing impairment, Clinodactyly, Tetraparesis, 3-4 toe s... |
OMIM:164200 |
| Osteogenesis Imperfecta |
|
Hearing impairment, Tetraparesis, Abnormal tibia morphology, Micrognathia, Genu valgum, Loss of a... |
ORPHA:666 |
| Arterial Tortuosity Syndrome |
|
Cardiorespiratory arrest, Pulmonary artery stenosis, Telangiectasia of the skin, Prematurely aged... |
ORPHA:3342 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Recurrent upper respiratory tract infections, Otosclerosis, Conductive hearin... |
ORPHA:580 |
| Lethal Acantholytic Erosive Disorder |
|
Fragile skin, Respiratory failure |
ORPHA:158687 |
| Cockayne Syndrome A |
|
Optic atrophy, Ventriculomegaly, Abnormal auditory evoked potentials, Square pelvis bone, Cerebel... |
OMIM:216400 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc... |
OMIM:232300 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Low-set ears, Microretrognathia, Small for gestational age, Failure to thrive, Tremor, Neonatal d... |
OMIM:614052 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
| Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Telangiectasia, Cutaneous photosensitivity, R... |
ORPHA:125 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Epiphyseal stippling, Cerebellar hypoplasia, Talipes equinovarus,... |
ORPHA:86822 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of... |
ORPHA:319675 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Cerebellar atrophy, Slender long bone, Hearing impairment, Upper limb undergrowth, ... |
ORPHA:369837 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Recurrent skin infections |
OMIM:612840 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Recurrent respiratory infections, Bro... |
ORPHA:980 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Chiari malformation, Genu valgum, Sho... |
ORPHA:93357 |
| Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Conjunctivitis, Vertigo, Chondritis, Recurrent aphthous stomatitis... |
ORPHA:728 |
| Tbck-Related Intellectual Disability Syndrome |
|
Ventriculomegaly, Clinodactyly, Eczematoid dermatitis, Inability to walk, 11 pairs of ribs, Senso... |
ORPHA:488632 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Small hand, Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Opti... |
OMIM:614947 |
| Amyotrophic Lateral Sclerosis |
|
Respiratory failure |
ORPHA:803 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Cyanosis, Respiratory failure requiring assisted ventilation |
OMIM:620423 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Sh... |
OMIM:617866 |
| Orofaciodigital Syndrome Type 1 |
|
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... |
ORPHA:2750 |
| Infantile Krabbe Disease |
|
Respiratory failure |
ORPHA:206436 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure |
OMIM:617301 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Dysphagia, Right ventricular hy... |
ORPHA:268 |
| Meckel Syndrome, Type 9 |
|
Talipes equinovarus, Limb undergrowth |
OMIM:614209 |
| Poems Syndrome |
|
Acrocyanosis, Pleural effusion, Plethora, Respiratory insufficiency due to muscle weakness |
ORPHA:2905 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Square pelvis bone, Small for gestational age... |
OMIM:133540 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Large for gestational age, Ventricular se... |
ORPHA:363705 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Abnormal crani... |
OMIM:186580 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Spasticity, Recurrent viral infections, Eczematoid dermatitis,... |
OMIM:620565 |
| Rift Valley Fever |
|
Severe viral infection, Hepatitis, Vertigo, Skin rash, Hemiparesis, Infectious encephalitis, Para... |
ORPHA:319251 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Sensorineural hearing impairment, Ab... |
ORPHA:818 |
| Omenn Syndrome |
|
Pneumonia, Recurrent viral infections, Failure to thrive, Recurrent fungal infections, Erythroder... |
OMIM:603554 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad thumb, Chiari malformation, Sensorineural hearing impairment, Motor stereotypy, Self-injuri... |
ORPHA:353281 |
| Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Atresia of the external auditory canal, Micrognathia, Sensorineural h... |
ORPHA:199 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth |
OMIM:259720 |
| Poliomyelitis |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Optic atrophy, Spasticity, Hemiplegia, Metaphyseal sclerosis, Genu valgum, Tremor, Abnormality of... |
OMIM:612199 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Glycosuria,... |
OMIM:600001 |
| Peripartum Cardiomyopathy |
|
Respiratory failure |
ORPHA:563 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Respiratory failure |
OMIM:617809 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... |
ORPHA:1329 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... |
ORPHA:99885 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Cry... |
OMIM:300967 |
| Sarcoidosis, Susceptibility To, 2 |
|
Clubbing, Erythema nodosum, Facial palsy, Bronchiectasis, Uveitis |
OMIM:612387 |
| Ataxia-Telangiectasia |
|
Bronchiectasis, Dysdiadochokinesis, Failure to thrive, Inability to walk, Myoclonus, Intention tr... |
OMIM:208900 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va... |
ORPHA:2968 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Failure t... |
OMIM:256040 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Vertigo, Paresthesia, Skin rash, Orchitis, Myositis, Peritonitis,... |
ORPHA:32960 |
| Kyphomelic Dysplasia |
|
Low-set ears, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia... |
OMIM:211350 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233710 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp... |
OMIM:271665 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate laughter, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia |
OMIM:224500 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Ventricular septal defect, Polycystic ovaries, Renal cyst, Cardi... |
ORPHA:137675 |
| Kagami-Ogata Syndrome |
|
Micrognathia, Limb undergrowth, Long fingers, Coxa valga, Microtia |
OMIM:608149 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, Orthostatic hypotens... |
OMIM:146500 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233690 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... |
OMIM:618019 |
| Gabriele-De Vries Syndrome |
|
Low-set ears, Ventriculomegaly, Sandal gap, Oral-pharyngeal dysphagia, Micrognathia, Tremor, Dyst... |
ORPHA:506358 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Cyanosis, Anomalous pulmonary venous return |
ORPHA:99104 |
| Encephalocraniocutaneous Lipomatosis |
|
Spasticity, Ventriculomegaly, Abnormal cartilage morphology, Hemiplegia, Rigidity, Hemiparesis, P... |
ORPHA:2396 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis |
ORPHA:99106 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Failure to thrive, Ery... |
OMIM:615895 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Low-set ears, Short toe, Micrognathia, Limb undergrowth, Short phalanx of finger, Wide anterior f... |
OMIM:225410 |
| Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Recurrent gram-negative bacteria... |
OMIM:116920 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Jerky head movements |
ORPHA:64280 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Broad thumb, Chiari malformation, Micrognathia, Sensorineural hearing impairment, M... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Broad thumb, Chiari malformation, Micrognathia, Sensorineural hearing impairment, M... |
ORPHA:353277 |
| Adult-Onset Still Disease |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Myocarditis, Weight loss, Arthritis, Cartilage de... |
ORPHA:829 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... |
OMIM:615530 |
| Fucosidosis |
|
Failure to thrive, Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria,... |
OMIM:230000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Depression, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, S... |
OMIM:157640 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Pleural effusion, Cyanosis |
OMIM:261740 |
| Ethylene Glycol Poisoning |
|
Pulmonary edema, Cyanosis |
ORPHA:31826 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent respiratory infections, Cutane... |
ORPHA:647 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Hearing impairment, Optic nerve compression, Otitis media, Tremor,... |
ORPHA:667 |
| Chromomycosis |
|
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis |
ORPHA:182 |
| Mesomelia-Synostoses Syndrome |
|
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Hear... |
OMIM:600383 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Recurrent... |
ORPHA:29207 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... |
ORPHA:96191 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Weight loss, Glomerulonephritis, Anorexia, ... |
ORPHA:1304 |
| Familial Dysautonomia |
|
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections |
ORPHA:1764 |
| Leigh Syndrome |
|
Respiratory failure |
ORPHA:506 |
| Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology, ... |
ORPHA:50945 |
| Esophageal Atresia |
|
Cyanosis, Recurrent respiratory infections, Bronchitis, Pulmonary hypoplasia |
ORPHA:1199 |
| Williams Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... |
ORPHA:904 |
| Cystic Fibrosis |
|
Decreased body mass index, Hearing impairment, Recurrent respiratory infections, Recurrent Asperg... |
ORPHA:586 |
| Joubert Syndrome 21 |
|
Respiratory failure, Occipital encephalocele, Encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Irritabili... |
ORPHA:51 |
| Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... |
ORPHA:3384 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyperactivity, At... |
OMIM:612716 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections, Failure to thrive, Sensorineural hearing im... |
OMIM:300972 |
| Steinert Myotonic Dystrophy |
|
Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Emotional lability, Obsessive-c... |
ORPHA:273 |
| Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss... |
OMIM:617321 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Aplastic clavicle, Cerebellar vermis hypoplasia, Ventriculomegaly, Micromelia, Prea... |
OMIM:616546 |
| Oculopharyngodistal Myopathy 1 |
|
Difficulty walking, Tremor, Sensorineural hearing impairment, Weight loss, Ataxia, Facial palsy, ... |
OMIM:164310 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency du... |
ORPHA:365 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Cyanosis, Nasal... |
OMIM:187300 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... |
ORPHA:2879 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly, Eunuchoid habitus |
ORPHA:2463 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Abnormal shoulder morphology, Abnormal hip joint morphology, Abnormal metatar... |
ORPHA:85408 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Hypophosphatemic rickets, Renal artery stenosis, Dilated cardiomyopathy |
OMIM:208000 |
| Tarp Syndrome |
|
Cyanosis, Pulmonary hypoplasia |
ORPHA:2886 |
| Nocardiosis |
|
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure |
ORPHA:31204 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Decreased body weight, Cardiomegaly,... |
OMIM:620371 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Respiratory failure |
ORPHA:340 |
| Lyme Disease |
|
Paresthesia, Infectious encephalitis, Arthritis, Meningitis, Uveitis |
ORPHA:91546 |
| Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Dermatomyositis |
|
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Lung adenoca... |
ORPHA:221 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Failure to thrive, Hypertrophic cardiomyopathy, Splenomegaly... |
OMIM:252500 |
| African Trypanosomiasis |
|
Difficulty walking, Hemiparesis, Weight loss, Choreoathetosis, Involuntary movements, Somatic sen... |
ORPHA:3385 |
| Stickler Syndrome |
|
Hip dislocation, Microretrognathia, Abnormal epiphysis morphology, Proximal femoral epiphysiolysi... |
ORPHA:828 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... |
OMIM:612132 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Cogan Syndrome |
|
Abnormal vestibular function, Keratitis, Vertigo, Episcleritis, Sensorineural hearing impairment,... |
ORPHA:1467 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Absent crus of helix... |
ORPHA:2753 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... |
OMIM:619143 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... |
ORPHA:85436 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Pulmonary arteriovenous malformatio... |
OMIM:610655 |
| Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Spasticity, Recurrent otitis media, Slender build, Action tremor, Synovitis, Ataxia... |
ORPHA:3455 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Conductive hearing impairment, Finger syndactyly, Short tibia, Complete... |
ORPHA:2751 |
| Cardiogenic Shock |
|
Cyanosis, Hypoxemia |
ORPHA:97292 |
| Neu-Laxova Syndrome 1 |
|
Low-set ears, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radi... |
OMIM:256520 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:306400 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Micrognathia, Sensorineural... |
ORPHA:648 |
| Sandifer Syndrome |
|
Esophagitis, Abnormal head movements, Torticollis |
ORPHA:71272 |
| Microscopic Polyangiitis |
|
Uveitis, Paresthesia, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Panc... |
ORPHA:727 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Emphysema, Abnormal pulmonary interstitial morphology, Respiratory failure, Respiratory insuffici... |
OMIM:613658 |
| Shigellosis |
|
Pneumonia, Sepsis, Ulcerative colitis, Failure to thrive in infancy, Peritonitis, Arthritis, Anor... |
ORPHA:810 |
| Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Nephritis, Nephrocalcinosis, Stage 5 chronic kidney disease, Renal insufficiency, Hematuria, Prot... |
OMIM:104200 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Recurrent viral infections, Sepsis, Necrotizing enterocolitis, Small for gest... |
OMIM:619573 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... |
ORPHA:96334 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
| Bartsocas-Papas Syndrome 1 |
|
Low-set ears, Hypoplastic scapulae, Absent thumb, Short thumb, Cupped ear, Oligodactyly, Hypoplas... |
OMIM:263650 |
| Charge Syndrome |
|
Low-set ears, Bifid femur, Cupped ear, Short thumb, Aplasia of the semicircular canal, Micrognath... |
OMIM:214800 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Cyanosis |
ORPHA:99103 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Recurrent pneumonia, Jaundice, Respiratory failure, Pulmonary hypoplasia |
ORPHA:731 |
| Generalized Pustular Psoriasis |
|
Sepsis, Obesity, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Overweight... |
ORPHA:247353 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cardi... |
ORPHA:293987 |
| Tuberous Sclerosis Complex |
|
Respiratory failure, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Generalized abn... |
ORPHA:805 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Severe failure to thrive, Abno... |
ORPHA:97297 |
| Granulomatosis With Polyangiitis |
|
Keratitis, Episcleritis, Weight loss, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis |
OMIM:608710 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypoplasia of the o... |
OMIM:619321 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Pneumothorax, Fragile skin, Respiratory failure |
ORPHA:79404 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure, Death in infancy |
OMIM:300868 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... |
ORPHA:199351 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Limb undergrowth, Hip dislocation, Failure to thrive |
OMIM:618005 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Failure to thrive, Gout, Enterocolitis, Pancr... |
ORPHA:79259 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Punctate keratitis, Keratoconjunctivitis sicca, Thyroiditis, Uveitis |
OMIM:617388 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long bones, Spina... |
ORPHA:488434 |
| Moderate Hemophilia A |
|
Synovitis, Cartilage destruction, Hip contracture |
ORPHA:169805 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Failure to thrive, Knee osteoarthritis, Oligoarthritis, Arthritis, Uveitis |
ORPHA:85410 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Oral aversion, Membranous nephropathy, Pancreatitis, Glomerulonephritis, Recur... |
ORPHA:470 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Respiratory failure requiring assisted ventila... |
ORPHA:99125 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Anorexia, Iridocyclitis, Weight loss, Clubbing, Arthritis, O... |
OMIM:181000 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Adrenal calcification, Fail... |
ORPHA:51608 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,... |
ORPHA:3472 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa... |
OMIM:601104 |
| X-Linked Intellectual Disability, Snyder Type |
|
Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, Hypospadias |
ORPHA:3063 |
| Localized Scleroderma |
|
Fasciitis, Sclerosis of finger phalanx, Esophagitis, Hashimoto thyroiditis, Arthritis, Uveitis |
ORPHA:90289 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Inflammation of the large intestine, Pancreatitis, Gout |
OMIM:232220 |
| Costello Syndrome |
|
Pneumothorax, Respiratory failure, Respiratory insufficiency |
OMIM:218040 |
| Pyknoachondrogenesis |
|
Low-set ears, Short iliac bones, Micromelia, Short ribs, Aplastic pubic bone, Short long bone, Ab... |
ORPHA:3003 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory failure |
ORPHA:2554 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Respiratory failure |
ORPHA:2556 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
| Aortic Arch Interruption |
|
Aortopulmonary window, Cyanosis |
ORPHA:2299 |
| Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Umbilical hernia, Spina bifida, Stillbirth, Respiratory failure |
OMIM:304120 |
| Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Micromelia, Crumpled long bones, Hearing abnormality, Femoral retroversion, Coxa vara... |
OMIM:610682 |
| Hallermann-Streiff Syndrome |
|
Small hand, Micrognathia, Short ribs, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Shor... |
ORPHA:2108 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
| Leprosy |
|
Uveitis, Dissociated sensory loss, Autoamputation of digits, Impaired temperature sensation, Pare... |
ORPHA:548 |
| Alkaptonuria |
|
Calcification of cartilage, Hearing abnormality, Prostatitis, Arthritis, Cartilage destruction, O... |
ORPHA:56 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... |
ORPHA:1677 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Small for gestational age |
ORPHA:567983 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Uveitis |
OMIM:193235 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Scleritis, Papilledema, Weigh... |
ORPHA:91500 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Unilateral lung agenesis, Respiratory failure |
ORPHA:500150 |
| Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Umbilical hernia, Ecchymosis, Fragile skin, Prematur... |
ORPHA:287 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... |
ORPHA:740 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
| Incontinentia Pigmenti |
|
Optic atrophy, Spasticity, Keratitis, Maculopapular exanthema, Uveitis |
OMIM:308300 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Eisenmenger Syndrome |
|
Aortopulmonary window, Hypoxemia, Cyanosis |
ORPHA:97214 |
| Ulbright-Hodes Syndrome |
|
Pneumothorax, Respiratory failure, Pulmonary hypoplasia |
ORPHA:3404 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Respiratory failure |
ORPHA:2636 |
| Marburg Hemorrhagic Fever |
|
Uveitis, Skin rash, Orchitis, Aggressive behavior, Severe infection, Pancreatitis, Arthritis, Ano... |
ORPHA:99826 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Fraser Syndrome |
|
Abnormality of the outer ear, Toe syndactyly, Conductive hearing impairment, Finger syndactyly, A... |
ORPHA:2052 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Leptospirosis |
|
Uveitis, Hepatitis, Skin rash, Optic neuritis, Papilledema, Anorexia, Meningitis, Pericarditis |
ORPHA:509 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Paresthesia, Scleritis, Keratoconjunctivitis, Recurrent bacterial skin i... |
ORPHA:95159 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatitis, Recurrent aphthous stomatitis, Gastritis, Glomerulonephritis, Arthritis, Colitis, Pann... |
ORPHA:3261 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis |
OMIM:303600 |
| Primary Sclerosing Cholangitis |
|
Hepatitis, Weight loss, Pancreatitis, Ulcerative colitis, Thyroiditis, Uveitis |
ORPHA:171 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Bruising susceptibility, Umbilical hernia |
ORPHA:285 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Paresthesia, Scleritis, Keratoconjunctivitis, Recurrent bacterial skin i... |
ORPHA:79277 |
| Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
| Pauci-Immune Glomerulonephritis |
|
Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ... |
ORPHA:93126 |
| Antiphospholipid Syndrome, Familial |
|
Scleritis, Keratitis, Iritis |
OMIM:107320 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Decreased body weight, Cardiomegaly, Mitral va... |
OMIM:182250 |
| Sarcoidosis |
|
Parotitis, Keratoconjunctivitis sicca, Facial palsy, Weight loss, Erythema nodosum, Tubulointerst... |
ORPHA:797 |
| Juvenile Xanthogranuloma |
|
Uveitis, Blepharitis, Iritis |
ORPHA:158000 |
| Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Uveitis |
OMIM:221900 |
| Retinoblastoma |
|
Uveitis |
ORPHA:790 |
