Gene Summary

Name:
F-box and WD-40 domain protein 8
Synonyms:
FBXO29,  Fbx29,  FBW8,  FBW6,  4930438M06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 2.93×10-06
increased eosinophil cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 1.40×10-21
increased circulating creatinine level Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 7.79×10-05
increased blood urea nitrogen level Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 7.21×10-06
increased basophil cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 2.92×10-19
preweaning lethality, incomplete penetrance Fbxw8tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased lymphocyte cell number Fbxw8tm1b(EUCOMM)Hmgu HET Early adult 4.61×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fbxw8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxw8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Immunodeficiency 40
Lymphopenia OMIM:616433
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Pulmonary Blastoma
Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Recurrent pneumonia, Hemoptysis, Pulmonary... ORPHA:64741
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 8
Lymphopenia OMIM:615401
Meconium Aspiration Syndrome
Maternal diabetes, Premature rupture of membranes, Wheezing, Respiratory distress, Maternal hyper... ORPHA:70588
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia OMIM:212050
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Placental Insufficiency
Abnormal lung morphology, Maternal hypertension, Proportionate short stature, Preeclampsia, Hypox... ORPHA:439167
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Premature birth, Pulmo... OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Halothane Hepatitis
Eosinophilia OMIM:234350
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Immunodeficiency 19
Lymphopenia OMIM:615617
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Premature birth, Respiratory failure, Nasal ... ORPHA:70587
Wells Syndrome
Eosinophilia ORPHA:901
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Azotemia, Familial
Azotemia OMIM:109160
Cinca Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hepatosplenomegaly, ... OMIM:607115
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Absent outer dynein arms, Rhinorr... OMIM:615067
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Amin... OMIM:229100
Rowley-Rosenberg Syndrome
Growth delay, Atelectasis, Recurrent pneumonia, Pulmonary arterial hypertension, Reduced subcutan... OMIM:268500
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Failure to thrive ORPHA:91130
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Decreased fetal ... OMIM:614399
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Epilepsy, Pyridoxine-Dependent
Prenatal movement abnormality, Neonatal respiratory distress, Fetal distress, Respiratory distress OMIM:266100
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Severe short stature OMIM:302000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased... OMIM:300580
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Eosinophilic Gastroenteritis
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Eos... ORPHA:2070
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Intrauterine growth retardation, ... ORPHA:1832
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Abnormal pulmonary arter... ORPHA:2257
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress, Obesity OMIM:615993
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Severe short stature, Respiratory distress, Failure to thrive OMIM:245590
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Respiratory failure, Premature birth OMIM:301021
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Postnatal growth retardation, Pulmonary hypoplasia, Small ... OMIM:616733
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive protein concentr... ORPHA:231111
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Atelectasis, Bronchogenic... ORPHA:2357
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, Elevated pulmonary arte... ORPHA:199241
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Gr... ORPHA:2414
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Respiratory distress, Failure to thrive ORPHA:26792
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Postnatal growth retardation, Truncal obesity, Small for ... ORPHA:73272
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... ORPHA:36238
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum iron OMIM:604250
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Bulbous nose, Wide nasal bridge, Failure to thrive, Intrau... ORPHA:261304
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Maternal diabetes, Respiratory distress, Fetal distress, Tachypnea, Large for ge... ORPHA:45452
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Postnatal growth retardation, Small for gestational age, Asthma, Intrauterine gr... ORPHA:397590
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive protein concentra... OMIM:617388
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Weight loss, Upper airway obstruc... ORPHA:142
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Death in childhood, Respiratory distress, Failure to thrive OMIM:615597
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Failure to thrive in infancy,... ORPHA:254875
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Exertional dyspn... ORPHA:2032
Congenital Laryngeal Web
Stridor, Respiratory distress, Short stature, Laryngomalacia ORPHA:2374
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Chitayat Syndrome
Polyhydramnios, Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology,... OMIM:617180
Gaucher Disease Type 2
Cough, Recurrent respiratory infections, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Farber Disease
Hydrops fetalis, Respiratory distress, Recurrent upper respiratory tract infections, Abnormal lar... ORPHA:333
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Stt3B-Cdg
Intrauterine growth retardation, Respiratory distress, Failure to thrive ORPHA:370924
Leukodystrophy, Hypomyelinating, 17
Anteverted nares, Respiratory distress, Short stature OMIM:618006
Succinic Acidemia
Respiratory distress OMIM:600335
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Premature ... ORPHA:555874
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Growth delay, Exertional dyspnea OMIM:250800
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Abscess, Eosinophilia OMIM:615816
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Neutropenia, Anemia OMIM:617056
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Failure to thrive, Cyanosis, Stridor ORPHA:444013
Netherton Syndrome
Hypereosinophilia OMIM:256500
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcemia, Eosinophilia, Macrocytic anemia ORPHA:199299
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory fa... ORPHA:2759
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Holocarboxylase Synthetase Deficiency
Respiratory distress, Growth delay, Weight loss, Desquamation of skin soon after birth, Tachypnea ORPHA:79242
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Sepsis In Premature Infants
Prenatal maternal abnormality, Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmon... ORPHA:90051
Goodpasture Syndrome
Ground-glass opacification, Restrictive ventilatory defect, Pulmonary hemorrhage, Reticular patte... OMIM:233450
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Lethal Recessive Chondrodysplasia
Polyhydramnios, Respiratory distress ORPHA:1423
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Failure to thrive in infancy, Cyanotic episode, Intrauterine growth r... ORPHA:284417
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress, Short nose OMIM:615042
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Prolonged neonatal jaundice, Large for gestational age, D... ORPHA:226313
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... OMIM:178550
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Cough, Wide nasal bridge, Atelectasis, Recurrent respiratory inf... ORPHA:2314
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Breath-Holding Spells
Cyanosis OMIM:607578
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia, Postnatal growth retardation, Small for gestati... ORPHA:254534
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Growth delay, Weight loss, Re... ORPHA:1549
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Odontochondrodysplasia
Short nose, Respiratory distress, Death in infancy, Short stature, Depressed nasal bridge ORPHA:166272
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Esophageal Atresia
Polyhydramnios, Laryngotracheomalacia, Choanal atresia, Failure to thrive in infancy, Small for g... ORPHA:1199
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Atelectasis, Failure to thrive, Respiratory insufficiency OMIM:618278
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Respiratory insufficiency due to muscle weakness, Decrease... ORPHA:1143
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Decreased body weight, Respiratory insufficiency, Intercostal muscle weakness, A... ORPHA:258
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Apnea, Respiratory distress, Short nose, Purpura, Decreased body weight, Decrease... OMIM:608013
Congenital Tracheal Stenosis
Polyhydramnios, Abnormal lung lobation, Wheezing, Dyspnea, 5-minute APGAR score of 3, Oligohydram... ORPHA:141127
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Tetrasomy 5P
Respiratory distress, Short nose, Postnatal growth retardation, Wide nasal bridge, Pulmonary hypo... ORPHA:3309
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Weight loss, Respirato... ORPHA:183
Congenital Myasthenic Syndrome
Polyhydramnios, Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden ep... ORPHA:98914
Malaria
Respiratory distress ORPHA:673
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypouricemia, Decreased proportion of C... ORPHA:760
Hemorrhagic Fever-Renal Syndrome
Pleural effusion, Respiratory insufficiency, Atelectasis, Hemoptysis, Pulmonary infiltrates ORPHA:340
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Congenital Disorder Of Glycosylation, Type Ie
Depressed nasal bridge, Telangiectasia, Failure to thrive, Respiratory distress OMIM:608799
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Anemia, Neutrophilia, Brain abscess, Liver... ORPHA:54251
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Pulmonary ly... ORPHA:538
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Oligohydramnios, Anteverted nares, Short no... ORPHA:536467
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Double Outlet Right Ventricle
Failure to thrive, Short stature, Pulmonary artery atresia, Tachypnea, Cyanosis, Depressed nasal ... ORPHA:3426
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Growth delay, Failure to thrive, Prominent nose OMIM:614407
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Hemoptysis, Pulmona... ORPHA:2038
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Generalized abnormality of skin, Respiratory distress, Fetal akinesia sequence, R... ORPHA:367
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Respiratory distress, Wide nose, Wide nasal bridge ORPHA:89844
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Diaphanospondylodysostosis
Respiratory distress, Oligohydramnios, Short nose, Respiratory insufficiency, Tracheomalacia, Inc... OMIM:608022
Chiari Malformation Type Ii
Inspiratory stridor, Spina bifida, Myelomeningocele, Cyanosis OMIM:207950
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Igg4-Related Pachymeningitis
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449427
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Microlissencephaly-Micromelia Syndrome
Polyhydramnios, Short nose, Respiratory distress, Fetal pyelectasis, Failure to thrive ORPHA:50810
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
High maternal serum alpha-fetoprotein, Short nose, Respiratory distress, Failure to thrive, Narro... ORPHA:544503
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Failure to thrive, Hemoptysis, Pulmona... ORPHA:99106
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:614204
Scleroderma
Elevated circulating creatine kinase concentration, Hypereosinophilia ORPHA:801
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Respiratory insufficiency, Atelectasis, Neonatal death, Pulmonary hypoplasia, Int... OMIM:269860
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Short umbilical cord, Stillbirth, Fetal akinesia sequence, Pulmonary hypoplasia, ... OMIM:208150
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Splenomegaly, Hyperlipidemia ORPHA:79477
Buerger Disease
Acrocyanosis ORPHA:36258
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates ORPHA:375
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Respiratory distress, Wide nasal bridge, Depressed nasal bridge OMIM:617102
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Anemia, Liver abscess, Eosinophilia ORPHA:284
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Odontochondrodysplasia 1
Respiratory distress, Mesomelic short stature, Death in infancy, Pulmonary hypoplasia, Short stat... OMIM:184260
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyp... OMIM:251110
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Polyhydramnios, Short nose, Respiratory distress, Failure to thrive, Recurrent respiratory infect... ORPHA:329178
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Hyperparathyroidism, Transient Neonatal
Polyhydramnios, Respiratory distress OMIM:618188
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Anemia ORPHA:90321
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Renal Dysplasia-Limb Defects Syndrome
Maternal diabetes, Respiratory distress, Oligohydramnios, Single umbilical artery, Pulmonary hypo... OMIM:266910
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Spina bifida, Chronic pulmonary obstruction, Bulbous nose... ORPHA:567
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Growth delay, Respiratory failure, Failure to thrive ORPHA:2707
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Short stature, Narrow nasal bridge OMIM:268320
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress ORPHA:98805
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Respiratory insufficiency, Stridor, Recurrent respiratory infectio... OMIM:211530
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia, Laryngomalacia, Postnatal growth retardation, R... ORPHA:254528
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Respiratory distress, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Elevated circulating C-reactive protein c... ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Growth delay, Respiratory distress, Failure to thrive OMIM:619272
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Growth delay, Pneumonia, Short stature ORPHA:1867
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Small for gestational ... ORPHA:26793
Methylmalonic Aciduria, Cbla Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyp... OMIM:251100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Respiratory distress ORPHA:289916
Relapsing Polychondritis
Dyspnea, Purpura, Cough, Erythema, Atelectasis, Laryngomalacia, Abnormal pattern of respiration ORPHA:728
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumo... ORPHA:51636
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis, Wide nasal bridge ORPHA:3304
Immunodeficiency 27A
Abnormal bronchus physiology, Pulmonary infiltrates, Pneumonia, Weight loss OMIM:209950
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hereditary Angioedema Type 1
Dyspnea, Respiratory distress, Abnormal respiratory system morphology, Inspiratory stridor, Phary... ORPHA:100050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Umbilical hernia, Disproportionate short-trunk short statur... OMIM:156550
Zygomycosis
Air crescent sign, Parenchymal consolidation, Pleural effusion, Cough, Acute infectious pneumonia... ORPHA:73263
Campomelic Dysplasia
Polyhydramnios, Apnea, Neonatal short-limb short stature, Respiratory distress, Tracheobronchomal... OMIM:114290
Carnitine-Acylcarnitine Translocase Deficiency
Preeclampsia, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death, Pulmonary hypoplasia, Depressed nasal bridge OMIM:231680
Myotonic Dystrophy 1
Polyhydramnios, Decreased fetal movement, Respiratory distress OMIM:160900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Elevated circulating creatinine concentration, Normocytic anemia ORPHA:247691
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia, Meningocele, Cyanosis, Myelomeningocele ORPHA:1136
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Growth delay, Abnormal pulmonary interstitial morpholog... ORPHA:209905
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory insufficiency due to muscle weakness, Respiratory distress, Failure to thrive, Exerti... OMIM:220110
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Respiratory distress, Pleural effusion, Fetal distress, Fetal as... ORPHA:292
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... OMIM:618885
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Respiratory failure requiring assisted ventilation, Postnatal gro... ORPHA:254519
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Fetal distress, Respiratory distress, Failure to thrive in infancy, Pulmonary fibrosis OMIM:612852
Lymphatic Malformation 7
Pulmonary edema, Nonimmune hydrops fetalis, Respiratory distress OMIM:617300
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
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
Granulomatosis With Polyangiitis
Pleuritis, Cough, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportio... OMIM:608710
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Yellow subcutaneous tissue covere... OMIM:256520
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Weight loss, Respiratory insuffic... ORPHA:2905
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia... OMIM:217980
Tarp Syndrome
Apnea, Wide nasal bridge, Pulmonary hypoplasia, Failure to thrive, Intrauterine growth retardatio... ORPHA:2886
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Jaundice, Small for ... OMIM:222470
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Coccidioidomycosis
Abscess, Abnormality of the spleen, Granuloma, Eosinophilia ORPHA:228123
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Umbilical hernia, Atelectasis, Respiratory insufficiency, Delayed puberty, Fail... ORPHA:534
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Central hypoventilation, Respiratory failure, Failure to thrive ORPHA:70474
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Death in infancy, Recurrent respiratory ... OMIM:301790
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Severe short stature, Respiratory failure, Chylo... ORPHA:3015
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Growth delay, Erythema, Urticaria ORPHA:343
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Dermatomyositis
Acrocyanosis, Pulmonary fibrosis, Weight loss, Telangiectasia of the skin, Erythema, Respiratory ... ORPHA:221
Infantile Krabbe Disease
Respiratory distress, Laryngomalacia, Respiratory failure, Cachexia, Failure to thrive ORPHA:206436
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mosaic Trisomy 16
Maternal diabetes, Abnormal lung morphology, Preeclampsia, Large placenta, Single umbilical arter... ORPHA:1708
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449563
Tetanus
Tachypnea, Respiratory distress, Laryngospasm ORPHA:3299
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Failure to thrive ORPHA:349
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Moebius Syndrome
Abnormal nasopharynx morphology, Respiratory distress, Depressed nasal bridge OMIM:157900
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Small for gestational age, Short stature, Fa... OMIM:260400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome