Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
chibby family member 1, beta catenin antagonist
Synonyms:
PGEA14,  Pgea1,  1110014P06Rik,  arb1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Cby1 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.

The table below shows human diseases associated to Cby1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration, Low-set ears, Highly arched eyebrow ORPHA:475

The table below shows human diseases predicted to be associated to Cby1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Reduced sperm motility, Short stature, Abnormal central microtubular pair mor... OMIM:612649
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Chronic bronchitis, Reduced sperm motility, Otitis media, Absent inner dynein arm... OMIM:613807
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Short stature, Abnormal ce... OMIM:612650
Ciliary Dyskinesia, Primary, 15
Infertility, Recurrent otitis media, Immotile sperm, Chronic bronchitis, Abnormal axonemal organi... OMIM:613808
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Absent central microtubular pair morphology of respiratory motile cilia, Neonatal... OMIM:617091
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia, Recurrent otitis media, Respiratory insufficiency ... OMIM:615505
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Male ... OMIM:612444
Ciliary Dyskinesia, Primary, 6
Sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia... OMIM:610852
Ciliary Dyskinesia, Primary, 26
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... OMIM:615500
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil... OMIM:242680
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Chronic sinusitis, Ciliar... OMIM:614679
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Chronic bronchitis,... OMIM:614874
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... OMIM:620032
Ciliary Dyskinesia, Primary, 13
Infertility, Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskine... OMIM:613193
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary... OMIM:612518
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Cellulitis, Short stature, Sepsis, Abnorma... ORPHA:229717
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections, Ciliary dyskin... OMIM:215520
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Ciliary Dyskinesia, Primary, 38
Infertility, Conductive hearing impairment, Chronic otitis media, Cough, Chronic sinusitis, Neona... OMIM:618063
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Infertility, Sinusitis, Nasal polyposis, Otitis media, Ciliary dyskinesia, ... OMIM:606763
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Combined Immunodeficiency, X-Linked
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decr... OMIM:312863
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Scedosporiosis
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... ORPHA:449280
Ciliary Dyskinesia, Primary, 22
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... OMIM:615444
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dysk... OMIM:614017
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... OMIM:618801
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Immotile sperm, Chronic rhinitis, Ciliary dyskinesia, Abnormal respir... OMIM:242670
Ciliary Dyskinesia, Primary, 25
Infertility, Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, B... OMIM:615482
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Sparse scalp hair, Sparse eyebrow, Abnormal respiratory motile cilium morphology, Ciliary dyskine... OMIM:225050
X-Linked Agammaglobulinemia
Alopecia, Sepsis, Abnormal lung morphology, Weight loss, Osteomyelitis, Cellulitis, Arthritis, He... ORPHA:47
Felty Syndrome
Sepsis, Weight loss, Pericarditis, Rhinitis, Cellulitis, Splenomegaly, Recurrent urinary tract in... ORPHA:47612
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal resp... OMIM:615294
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Cellulitis, Se... ORPHA:33110
Primary Ciliary Dyskinesia
Airway obstruction, Female infertility, Anomalous pulmonary venous return, Chronic sinusitis, Pol... ORPHA:244
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic bronchitis... OMIM:614935
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent upper ... ORPHA:277
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
High-frequency hearing impairment, Otitis media, Recurrent bronchitis, Chronic sinusitis, Recurre... OMIM:300455
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Short stature, Recurrent bacterial infections, Recurrent otitis m... OMIM:616022
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... OMIM:617092
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Recurrent skin infections, Increased propor... OMIM:301082
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Infertility, Decreased nasal nitric oxide, Cough,... OMIM:618300
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Asthma, Recurrent upper and lower respiratory tract infections, Sinusitis, Otitis media, Atopic d... ORPHA:70593
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Aspergillosis
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... ORPHA:1163
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Recurrent bronchitis, Chronic sinusitis, Recur... OMIM:612692
Cyclic Neutropenia
Sinusitis, Periodontitis, Lymphopenia, Enterocolitis, Cellulitis, Otitis media, Recurrent skin in... ORPHA:2686
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Nasal polyposis, Absent frontal sinuses, Chronic otitis media, Chr... OMIM:244400
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, N... OMIM:613502
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Ciliary Dyskinesia, Primary, 24
Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age, Pulmonary hypoplasia, Postn... OMIM:616733
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, P... OMIM:307200
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress, Pulmonary arterial hypertens... OMIM:619003
Yellow Nail Syndrome
Sinusitis, Yellow nails, Neoplasm of the lung, Cough, Pleuritis, Pulmonary arterial hypertension,... ORPHA:662
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... ORPHA:183675
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... ORPHA:70589
Larsen-Like Syndrome, Lethal Type
Laryngomalacia, Tracheomalacia, Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Overfolded helix, Retrognathia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnor... ORPHA:2631
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Recurrent viral i... ORPHA:443811
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Fusariosis
Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti... ORPHA:228119
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Chronic bronchitis, Short stature, Malar flattening, Micrognathia, ... OMIM:242860
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sepsis, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, I... ORPHA:36234
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, Knee flexion contractur... OMIM:616531
Lethal Congenital Contracture Syndrome 11
Retrognathia, Pulmonary hypoplasia OMIM:617194
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire... OMIM:618449
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Absent circulating B cells, Recurrent pneumonia, Recu... OMIM:613500
Primary Pulmonary Hypoplasia
Apnea, Asthma, Intrauterine growth retardation, Failure to thrive, Hypoxemia, Micrognathia, Tachy... ORPHA:2257
Immunodeficiency 20
Recurrent oral herpes, Severe varicella zoster infection, Wheezing, Recurrent sinusitis, Recurren... OMIM:615707
Specific Granule Deficiency 2
Failure to thrive, Abnormal pinna morphology, Hirsutism, Neutropenia, Anemia, Sepsis, Recurrent b... OMIM:617475
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Recurrent bacterial infection... OMIM:607594
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Eos... ORPHA:183
Granulomatosis With Polyangiitis
Keratitis, Sinusitis, Conjunctivitis, Respiratory insufficiency, Hemosiderin-laden macrophages in... OMIM:608710
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Protruding ear, Flexion contracture, Retrognathia, Micrognathia, Camptodactyly, ... OMIM:617468
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Pulmonary hypoplasia OMIM:614096
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... OMIM:619436
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe... ORPHA:169105
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent sinusitis, Decreased proportion of class-switched memor... OMIM:613493
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Rheumatic Fever
Sinusitis, Respiratory insufficiency, Endocarditis, Abnormal pleura morphology, Myocarditis, Arth... ORPHA:3099
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Growth delay, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Ec... OMIM:243700
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Chron... OMIM:618699
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Neonatal respirato... OMIM:616867
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Sinusitis, Inflammatory abnormality of the skin, Recurrent fungal infections, Failure to ... OMIM:102700
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor... OMIM:618204
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Malar flattening, Micrognathia, Neonatal death, Pulmon... OMIM:224410
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Short stature, Splenomegaly, Abnormal pulmonary interstitial morphology, ... OMIM:607616
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cough, Whee... OMIM:613490
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... OMIM:614372
Atelosteogenesis, Type Ii
Malar flattening, Micrognathia, Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth OMIM:256050
Achondrogenesis Type 2
Cardiorespiratory arrest, Hearing impairment, Pulmonary hypoplasia, Short stature ORPHA:93296
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Whim Syndrome
Sinusitis, Neutropenia, Lymphopenia, Cellulitis, Otitis media, Recurrent upper respiratory tract ... ORPHA:51636
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent... OMIM:300991
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615451
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Alopecia, Splenomegaly, Recurrent bacterial infec... OMIM:603554
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Chronic Granulomatous Disease
Sinusitis, Chronic pulmonary obstruction, Otitis media, Splenomegaly, Eczema, Sepsis, Abnormality... ORPHA:379
Whim Syndrome 1
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neu... OMIM:193670
Minicore Myopathy With External Ophthalmoplegia
Respiratory insufficiency, Pulmonary hypoplasia, Increased connective tissue, Recurrent respirato... OMIM:255320
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent sinusitis... OMIM:300853
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchit... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Recurrent bacterial skin infections, Decreased proportion of naive T cells, Ch... ORPHA:276
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Hypocomplementemic Urticarial Vasculitis
Sensorineural hearing impairment, Airway obstruction, Skin rash, Splenomegaly, Recurrent bacteria... ORPHA:36412
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Rhinitis, Recurrent infection of the gastrointestinal tract, Cellulitis, Recurrent... ORPHA:486
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Alopecia, Atrophic gastritis, Thrombocy... OMIM:616576
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Respiratory insufficiency, Hearing impairment, Pulmona... ORPHA:2655
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:615524
Choanal Atresia
Respiratory distress, Laryngomalacia, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sin... ORPHA:137914
Cleft Lip With Or Without Cleft Palate
Hearing impairment, Chronic sinusitis, Recurrent otitis media ORPHA:1991
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Pneumonia, BCGosis, Intrauterine growth retardation, ... ORPHA:2968
Mucopolysaccharidosis Type 6
Failure to thrive, Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Chronic... ORPHA:583
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... ORPHA:217390
Hypophosphatasia
Short stature, Respiratory insufficiency, Emphysema, Anemia, Failure to thrive in infancy ORPHA:436
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia ORPHA:2140
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Shwachman-Diamond Syndrome
Eczema, Sepsis, Aplastic anemia, Delayed eruption of teeth, Macrocytic anemia, Carious teeth, Pne... ORPHA:811
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Recurrent... OMIM:614379
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertens... OMIM:612387
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia OMIM:274210
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent infection of the gastrointestinal tract, Otitis... OMIM:251260
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Micrognathia, Respiratory insufficiency, Anemia, Aplasia/Hypoplasia of the lungs ORPHA:1046
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Riddle Syndrome
Otitis media, Short stature, Recurrent viral infections, Abnormal pulmonary interstitial morpholo... ORPHA:420741
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Sepsis, Blepharitis, Recurrent intrapulmonary hemorrhage, Inflam... ORPHA:906
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Intrauterine growth retardation, Micrognathia, Respiratory insuffici... ORPHA:994
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Failure to thrive, Recurrent bronchopulmo... OMIM:219700
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyo... OMIM:242700
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Odontochondrodysplasia 1
Respiratory distress, Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Pulmon... OMIM:184260
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr... ORPHA:2552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Recurren... OMIM:613101
Agnathia-Otocephaly Complex
Respiratory distress, Conductive hearing impairment, Tracheomalacia, Micrognathia, Hypoplasia of ... OMIM:202650
Mucopolysaccharidosis Type 1
Sensorineural hearing impairment, Apnea, Sinusitis, Generalized hirsutism, Low anterior hairline,... ORPHA:579
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Micrognathia, Pulmonary hypoplasia, Omphalocele OMIM:236640
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Granulomatosis With Polyangiitis
Pancreatitis, Otitis media, Increased inflammatory response, Weight loss, Pericarditis, Inflammat... ORPHA:900
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Contractures of the large joints, Pulmonary hypoplasia, Respiratory infections in early ... ORPHA:96179
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Cellul... OMIM:618986
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Multiple lipomas, Emphysema ORPHA:122
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Malar flattening, Short stature, Micrognathia, Pulmonary hypopla... OMIM:300978
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent sinusitis, Cigarette-paper scars, Hernia, Atrophic scars OMIM:130010
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Omphalocele, Low-set ears, Respiratory failure OMIM:617895
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Microtia, Splenomegaly, Anemia, Hepatosplenom... OMIM:608013
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Lymphopenia, Otitis media, Recurrent upper respiratory tract infections, Eczema, Decre... OMIM:600903
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Keutel Syndrome
Airway obstruction, Peripheral pulmonary artery stenosis, Sinusitis, Recurrent otitis media, Mala... OMIM:245150
Immunodeficiency 36
Lymphopenia, Short stature, Splenomegaly, Recurrent upper respiratory tract infections, Recurrent... OMIM:616005
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Low-... OMIM:236500
Tetrasomy 5P
Respiratory distress, Failure to thrive, Micrognathia, Pulmonary hypoplasia, Pericallosal lipoma,... ORPHA:3309
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent fungal infections, Persistence of primary teeth, Skin rash, Eosi... OMIM:147060
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Congenital diaphragmatic hernia, Flexion contracture, Frontotemporal hypertric... OMIM:263210
Severe Congenital Nemaline Myopathy
Flexion contracture, Increased connective tissue, Pulmonary hypoplasia, Arthrogryposis multiplex ... ORPHA:171430
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Cleidocranial Dysplasia
Abnormal dental enamel morphology, Sleep apnea, Sinusitis, Supernumerary tooth, Short stature, Mi... ORPHA:1452
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Lymphopenia, Skin rash, Flexion contracture, Splenomegaly, Myositis... OMIM:617591
Spondylospinal Thoracic Dysostosis
Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita OMIM:601809
Kagami-Ogata Syndrome
Laryngomalacia, Flexion contracture, Microtia, Inguinal hernia, Splenomegaly, Retrognathia, Micro... OMIM:608149
Alg3-Cdg
Abnormal pinna morphology, Lipodystrophy, Pulmonary hypoplasia, Recurrent infections, Arthrogrypo... ORPHA:79321
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele, Low-set ears OMIM:601163
Laryngotracheoesophageal Cleft
Laryngomalacia, Laryngeal cleft, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Strid... ORPHA:2004
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Crackles, Aplastic anemia, Reticular pattern on pulmonary HRCT, Myeloid leukemia, Decreas... OMIM:614742
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... OMIM:209920
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec... OMIM:612541
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Eosinophilia, Abnormal lung morphology, Dyspne... ORPHA:449427
Tularemia
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Anemia, Leukocytosis, Abnormal nas... ORPHA:3392
Diaphanospondylodysostosis
Respiratory distress, Inguinal hernia, Tracheomalacia, Micrognathia, Respiratory insufficiency, D... OMIM:608022
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Ataxia-Telangiectasia
Failure to thrive, Sinusitis, Lymphopenia, Short stature, Hypoplasia of the thymus, T lymphocytop... OMIM:208900
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulm... ORPHA:2847
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Intrauterine growth retardation, Flexion contracture, Small for gestational ag... OMIM:616897
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Neonatal death, Pulmonary hypoplasia, Lethal short-lim... OMIM:187600
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Nephronophthisis 2
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory failure, Chronic tubulointerstitial ... OMIM:602088
Netherton Syndrome
Sparse scalp hair, Asthma, Skin rash, Sparse eyebrow, Sparse eyelashes, Short stature, Eczema, Tr... ORPHA:634
Cutis Laxa, Autosomal Recessive, Type Ic
Laryngomalacia, Inguinal hernia, Tracheomalacia, Retrognathia, Micrognathia, Malar flattening, Pu... OMIM:613177
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Unusu... ORPHA:73263
Common Variable Immunodeficiency
Lymphopenia, Posterior pharyngeal cleft, Otitis media, Splenomegaly, Autoimmune thrombocytopenia,... ORPHA:1572
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Apnea, Short stature, Micrognathia, Delayed eruption of teeth... ORPHA:85201
Immunodeficiency 23
Sensorineural hearing impairment, Asthma, Conductive hearing impairment, Failure to thrive, Lymph... OMIM:615816
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Micrognathia, Inflammation of the large intestine, Pulmonary hypoplasia, Knee flexio... OMIM:619708
Alpha-1-Antitrypsin Deficiency
Hepatitis, Emphysema ORPHA:60
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Increased proportion autoreactive unresponsive CD21-/low B cells, Splenomegaly, Recurre... OMIM:615559
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Pulmonary hypoplasia, Low-set, posteriorly rotated ears, Short stature ORPHA:1486
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Pallister-Hall-Like Syndrome
Micrognathia, Pulmonary hypoplasia OMIM:241800
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short stature, Hypergonadotropic hypogonadism, Hyposegmentation ... ORPHA:250999
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Chronic oral candidiasis, Splenomegaly, Chronic hepatitis, Sepsis, Sclerosing ... OMIM:308230
Lethal Congenital Contracture Syndrome 1
Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita OMIM:253310
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Thrombocytosis, Abnormal b... OMIM:209950
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Emphysema OMIM:210050
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, N... OMIM:616740
Fragile X Syndrome
Sinusitis, Protruding ear, Otitis media, Chronic otitis media, Mandibular prognathia ORPHA:908
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Growth delay, Episodic respiratory distress, Chronic... ORPHA:1199
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Pulmonary hypoplasia, Synophrys, Low-set ears, Highly arched eyebrow OMIM:618316
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Congenital diaphragmatic hernia, Inguinal hernia, Short stature, M... OMIM:601186
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Colitis, Splenomegaly, Chronic lung ... OMIM:614700
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respi... OMIM:619632
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Dental malocclusion, Respiratory insufficiency, Distal arthrogryposis, Pulmonary hypoplasia, Resp... OMIM:618975
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Recurrent bacterial infections, Autoimmune thrombocytopenia, Recurrent respir... OMIM:613496
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Recurrent sinu... OMIM:601495
Reticular Dysgenesis
Failure to thrive, Skin rash, Anemia, Sepsis, Leukopenia, Chronic otitis media, Abnormality of ne... ORPHA:33355
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hirsutism, Severe short stature, Flexion contracture, Micrognathia, Respiratory insufficiency, Pu... ORPHA:1865
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex congenita,... OMIM:616866
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Meningitis, Absent circulating B cells, Recurrent respiratory infections, Tr... OMIM:619707
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Cough, Male infertility, Chronic sinusitis, Recurrent otitis media, Decreased nasal nitric oxide OMIM:619607
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Fair hair, Neutropenia... OMIM:608233
Cernunnos-Xlf Deficiency
Growth delay, Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, ... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Recurrent bacterial infections, Hep... OMIM:607624
Gaucher Disease, Type Ii
Apnea, Failure to thrive, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia,... OMIM:230900
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Conductive hearing impairment, Failure to thrive, Inguinal hernia, Short stature, M... ORPHA:2990
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Short stature ORPHA:474
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Brain abscess, Cough, Decreased DLCO, Pneumonia, Restric... OMIM:610910
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Mirage Syndrome
Decreased body weight, Lymphopenia, Short stature, Hypergonadotropic hypogonadism, Aspiration pne... OMIM:617053
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Septic arthritis, Prostatitis, Py... OMIM:300755
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections, Growth delay OMIM:615468
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601160
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... OMIM:312150
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Abnormal pinna morphology, Pulmonary hypoplasia, Neonatal death OMIM:231680
Matthew-Wood Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Abnormal spleen morphology, Pulmonary hypopla... ORPHA:2470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Recurrent upper and lower respiratory tract infections, Recurrent fungal infec... ORPHA:331206
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Anemia, Pulmonary hemorrhage, Hepatosplenomegaly, Cough, Thrombocytope... ORPHA:79124
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Marden-Walker Syndrome
Joint contracture of the hand, Inguinal hernia, Micrognathia, Camptodactyly, Pulmonary hypoplasia... OMIM:248700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Meier-Gorlin Syndrome 4
Failure to thrive, Microtia, Short stature, Micrognathia, Birth length less than 3rd percentile, ... OMIM:613804
Hemidystonia-Hemiatrophy Syndrome
Abnormal paranasal sinus morphology, Rhizomelic leg shortening, Advanced pneumatization of crania... ORPHA:306741
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... OMIM:253290
Immunodeficiency 14B, Autosomal Recessive
Colitis, Candida esophagitis, Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large ... OMIM:619281
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... OMIM:619824
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Sinusitis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Eczema, ... ORPHA:238468
Tarp Syndrome
Abnormal antihelix morphology, Apnea, Failure to thrive, Thick eyebrow, Extramedullary hematopoie... ORPHA:2886
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Micrognathia, Pulmonary hypoplasia, Omphalocele, Intrauterine growth retardation ORPHA:3035
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Hypoxemia, Transuda... ORPHA:284227
Nocardiosis
Respiratory distress, Keratitis, Unusual CNS infection, Lymphadenitis, Sepsis, Pneumonia, Pericar... ORPHA:31204
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pustule, Increased red blood cell count, Infectious encephalit... ORPHA:68
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Low-set ears, Pulmonary hypoplasia, Malar flattening ORPHA:85166
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Anemia, Respiratory insufficiency, Rhizomelia, Hernia, Severe short-limb dwarf... ORPHA:1842
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Ce... OMIM:306400
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... ORPHA:185
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... OMIM:610984
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Pustule, Skin rash, Sparse hair, Leukopenia, Myositis, Tachypnea,... OMIM:615934
Prolidase Deficiency
Asthma, Failure to thrive, Facial hirsutism, Splenomegaly, Micrognathia, Eczema, Chronic lung dis... OMIM:170100
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Splenomegaly, Short stature ORPHA:2204
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Pulmonary hypoplasia, Asplenia OMIM:615415
Stuve-Wiedemann Syndrome 1
Apnea, Sparse hair, Malar flattening, Short stature, Micrognathia, Respiratory insufficiency, Cam... OMIM:601559
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Renal Hypodysplasia/Aplasia 1
Retrognathia, Low-set ears, Primary amenorrhea, Pulmonary hypoplasia OMIM:191830
Distal Tetrasomy 15Q
Sensorineural hearing impairment, Abnormal helix morphology, Flexion contracture, Microtia, Retro... ORPHA:314588
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Interstitial pneumoni... ORPHA:449395
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Microretrognathia, Respiratory insufficiency, Rhizomelia, Pulmonary hyp... OMIM:616300
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Intrauterine growth retardation, Abnormal pinna morphology, Micrognathia, N... OMIM:266910
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Failure to thrive, Intraalveolar phospholipid acc... OMIM:300770
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Short stature, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the lungs, Intrauterine g... ORPHA:2725
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ce... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ce... OMIM:233710
Meckel Syndrome 14
Microretrognathia, Retrognathia, Micrognathia, Cardiorespiratory arrest, Pulmonary hypoplasia, Pn... OMIM:619879
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency, Common Variable, 10
Asthma, Onychomycosis, Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent sin... OMIM:615577
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Keutel Syndrome
Alopecia, Short stature, Recurrent sinusitis, Hearing impairment, Recurrent otitis media, Pulmona... ORPHA:85202
Serkal Syndrome
Growth delay, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ce... OMIM:233690
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO, Emphysema OMIM:618913
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility, Chronic otitis media, Chronic sinusitis, Decreased nasal nitr... OMIM:619608
Peroxisome Biogenesis Disorder 1A (Zellweger)
Sensorineural hearing impairment, Low-set ears, Failure to thrive, Abnormal helix morphology, Mal... OMIM:214100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Failure to thrive, Desquamative interstitial pneumonitis, ... OMIM:265120
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Protruding ear, Hypertrichosis, Chronic oral candidiasis, Recurrent fungal infections, Abnormal T... ORPHA:221139
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Sensorineural hearing impairment, Peritonitis, Elevated pulmonary artery pressure, Respiratory fa... OMIM:619351
Lethal Congenital Contracture Syndrome 10
Micrognathia, Hypoplasia of the thymus, Pulmonary hypoplasia, Omphalocele, Intrauterine growth re... OMIM:617022
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Micrognathia, Camptodactyly of finger, Abnormal pleura morphology, L... ORPHA:2570
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Orchitis, Pancreatitis, Eosinophilia, Neoplasm of the lung, Ch... ORPHA:449563
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Sparse eyebrow, Microtia, Supernumerary nipple, Short stature, P... OMIM:612530
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis, Recurrent ba... OMIM:612840
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage, Macrothrombocytopenia, Neutropenia, Thrombo... OMIM:603585
Teebi Hypertelorism Syndrome 1
Short stature, Micrognathia, Pulmonary hypoplasia, Widow's peak, Omphalocele, Natal tooth, Highly... OMIM:145420
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Congenital Hypothyroidism
Sinusitis, Abnormal hair morphology, Short stature, Umbilical hernia, Abnormality of reproductive... ORPHA:442
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Bone Marrow Failure Syndrome 4
Short stature, Anemia, Eczema, Leukopenia, Rhizomelia, Low-set ears, Thrombocytopenia, Recurrent ... OMIM:618116
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Abnormal pinna morphology, Inguinal hernia, Splenomegaly, Respir... OMIM:269860
Czeizel-Losonci Syndrome
Prominent antitragus, Micrognathia, Low-set, posteriorly rotated ears, Aplasia of the left hemidi... ORPHA:2437
Achondrogenesis
Severe short stature, Inguinal hernia, Micrognathia, Umbilical hernia, Aplasia/Hypoplasia of the ... ORPHA:932
Joubert Syndrome 21
Dyspnea, Apnea, Sensorineural hearing impairment, Pulmonary hypoplasia OMIM:615636
Multiple Pterygium Syndrome, Escobar Variant
Conductive hearing impairment, Multiple joint contractures, Dental malocclusion, Congenital diaph... OMIM:265000
Omenn Syndrome
Failure to thrive, Leukocytosis, Alopecia, Aplasia/Hypoplasia of the eyebrow, Splenomegaly, Sepsi... ORPHA:39041
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Hearing impairment, Short stature ORPHA:93274
Chédiak-Higashi Syndrome
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment... ORPHA:167
Achondrogenesis Type 1B
Severe short stature, Micrognathia, Femoral hernia, Umbilical hernia, Aplasia/Hypoplasia of the l... ORPHA:93298
Absence Of The Pulmonary Artery
Growth delay, Pulmonary edema, Nonproductive cough, Orthopnea, Pulmonary hypoplasia, Recurrent pn... ORPHA:980
Atelosteogenesis Type Ii
Micrognathia, Rhizomelic arm shortening, Camptodactyly, Tracheobronchomalacia, Rhizomelia, Laryng... ORPHA:56304
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Malar flattening, Short stature, Microtia, Micrognathia, Aplasia/H... ORPHA:2145
Poikiloderma With Neutropenia
Blepharitis, Neutropenia, Recurrent bronchopulmonary infections, Skin rash, Sparse eyebrow, Short... OMIM:604173
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Small for gestational age, Micrognathia, Delayed eruption of teeth, Advanced erupt... OMIM:619148
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Low-set, posteriorly rotated ears, Abnormal lung l... ORPHA:958
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arthritis, Uveitis, Increased inflammatory respo... ORPHA:727
Ogden Syndrome
Apnea, Sparse eyebrow, Eczema, Long eyelashes, Pulmonary hypoplasia, Umbilical hernia, Intrauteri... OMIM:300855
Atelosteogenesis Type I
Neonatal short-trunk short stature, Micrognathia, Rhizomelia, Pulmonary hypoplasia, Laryngotrache... ORPHA:1190
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Low-set ears, Micrognathia, Pulmonary hypoplasia OMIM:251230
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Acute Promyelocytic Leukemia
Neutropenia, Leukocytosis, Metrorrhagia, Anemia, Leukopenia, Thrombocytopenia, Pancytopenia, Stom... ORPHA:520
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Stomatitis, Decreased proportion of CD4-po... OMIM:613011
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Skin rash, Recurrent bacterial infections, B lymphocytopenia, Lipodystrophy, I... OMIM:618048
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Short stature, Respiratory insufficiency, Pulmonary hypoplasia, Recurrent respiratory ... OMIM:208500
Raine Syndrome
Abnormal pinna morphology, Protruding ear, Malar flattening, Short stature, Micrognathia, Mixed h... OMIM:259775
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arte... ORPHA:99050
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Short stature, Splenomegaly, Thrombocytopenia, Menin... OMIM:616050
Diaphragmatic Hernia 4, With Cardiovascular Defects
Micrognathia, Aplasia of the left hemidiaphragm, Pulmonary artery hypoplasia, Pulmonary hypoplasi... OMIM:620025
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Dentinogenesis imperfecta, Tracheomalacia, Mic... ORPHA:536467
Achondrogenesis Type 1A
Severe short stature, Micrognathia, Femoral hernia, Umbilical hernia, Aplasia/Hypoplasia of the l... ORPHA:93299
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Abnormal helix morphology, Congenital diaphragmatic hernia, Re... ORPHA:1120
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Short stature, Aplasia/Hypoplasia of the eyebrow, Pulmonary hypoplasia, Fine hair OMIM:614091
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Autosomal Recessive Polycystic Kidney Disease
Splenomegaly, Micrognathia, Hepatosplenomegaly, Recurrent urinary tract infections, Thrombocytope... ORPHA:731
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Whipple Disease
Splenomegaly, Anemia, Cachexia, Respiratory insufficiency, Myositis, Myocarditis, Cough, Arthriti... ORPHA:3452
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive, Inguinal hernia, Retrognathia, Contracture of the distal... ORPHA:83617
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Alopecia, Recurrent upper respiratory tract infections, Sepsis, Severe B lymph... ORPHA:293978
Alg9-Cdg
Large fleshy ears, Asthma, Hypertrichosis, Hypoplasia of the ovary, Microretrognathia, Micrognath... ORPHA:79328
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infections, Congenital agranulocytosi... OMIM:202700
Chromomycosis
Keratitis, Recurrent bacterial infections, Atypical scarring of skin, Abnormal lung morphology, K... ORPHA:182
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Severe viral infection, Increased inflammatory res... ORPHA:48435
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia, Arthrogryposis multiplex congenita ORPHA:86822
Neu-Laxova Syndrome
Intrauterine growth retardation, Flexion contracture, Retrognathia, Micrognathia, Hypogonadism, A... ORPHA:2671
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Vici Syndrome
Sensorineural hearing impairment, Failure to thrive, Growth delay, Recurrent fungal infections, M... OMIM:242840
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Otopalatodigital Syndrome Type 2
Failure to thrive, Abnormal pinna morphology, Malar flattening, Micrognathia, Camptodactyly of fi... ORPHA:90652
Fontaine Progeroid Syndrome
Absent nipple, Reduced subcutaneous adipose tissue, Hypertrichosis, Coarse hair, Pulmonary hypopl... OMIM:612289
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Severe short stature, Low-set, posteriorly rotated ears, Camptod... ORPHA:2635
Boomerang Dysplasia
Severe short-limb dwarfism, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:1263
Oligomeganephronia
Congenital diaphragmatic hernia, Small for gestational age, Pulmonary venous occlusion, Micrognat... ORPHA:2260
Meier-Gorlin Syndrome 7
Decreased body weight, Microtia, Short stature, Thin eyebrow, Pulmonary hypoplasia, Growth delay,... OMIM:617063
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Mosaic Trisomy 1
Abnormal pinna morphology, Microretrognathia, Congenital diaphragmatic hernia, Camptodactyly of f... ORPHA:1692
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent sinusitis, Recurrent infections, Recurrent aphthous stomatitis OMIM:613960
Q Fever
Respiratory distress, Unusual infection, Osteomyelitis, Splenomegaly, Anemia, Maculopapular exant... ORPHA:781
Interstitial Lung And Liver Disease
Failure to thrive, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Abnormal p... OMIM:615486
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hy... OMIM:611812
Immunodeficiency 70
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia, Neonatal death, Splenomegaly OMIM:263200
Meier-Gorlin Syndrome 6
Laryngomalacia, Conductive hearing impairment, Failure to thrive, Severe short stature, Microretr... OMIM:616835
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Growth delay, Recurrent fungal infections, Lymphopenia, Small for ge... OMIM:619573
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Flexion contracture, Respiratory insufficiency, Myositis, Increased connec... ORPHA:258
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Leukocytosis, Sepsis, Leukopenia, Myocarditis, Abnormal macropha... ORPHA:292
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Leukocytosis, Anemia, Pleural empyema, Constrictive pericarditis, Cough, Pleural e... ORPHA:67
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Large fleshy ears, Congenital diaphragmatic hernia, Overfolded helix, Micrognathia, Cupped ear, L... OMIM:614080
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal helix morphology, Infantile sensorineural hearing impairment, Stre... ORPHA:798
Gaucher Disease, Type I
Splenomegaly, Abnormal pulmonary interstitial morphology, Thrombocytopenia, Pancytopenia, Dyspnea... OMIM:230800
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Pulmonary hypoplasia, Omphalocele, Extrapulmonary sequestrum, Low-set ... OMIM:200995
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Inflam... OMIM:181000
Greenberg Dysplasia
Laryngeal calcification, Disproportionate short-limb short stature, Retrognathia, Micrognathia, H... OMIM:215140
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Multiple joint contractures, Flexion contracture, Inguinal hernia, Short statu... ORPHA:536471
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Recurrent bacterial infections, ... OMIM:610738
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Congenital alveolar dysplasia, Scimitar anom... OMIM:608978
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphysema, Recurrent respirat... OMIM:219100
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Autosomal Recessive Amelia
Micrognathia, Aplasia/Hypoplasia of the lungs ORPHA:1027
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Azoospermia, Male infertility ORPHA:94064
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Flexion contracture, Alopecia, Short stature, Micrognathia,... OMIM:308050
Tetraploidy
Micrognathia, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Hypoplasia of the... ORPHA:3305
Achondrogenesis, Type Ia
Stillbirth, Low-set ears, Pulmonary hypoplasia, Disproportionate short-trunk short stature OMIM:200600
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Large earlobe, Infertility, Megaloblastic anemia, Gastritis, Recurrent bronchopulmonary infection... OMIM:219721
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Inguinal hernia, Respiratory insufficiency, Recurrent urina... ORPHA:90349
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Exertion... OMIM:133100
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Orofaciodigital Syndrome Type 4
Laryngomalacia, Conductive hearing impairment, Intrauterine growth retardation, Failure to thrive... ORPHA:2753
Prune Belly Syndrome
Failure to thrive, Recurrent urinary tract infections, Aplasia/Hypoplasia of the lungs, Recurrent... ORPHA:2970
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Stevens-Johnson Syndrome
Dyspareunia, Pancreatitis, Anemia, Sepsis, Abnormal pleura morphology, Cough, Abnormality of neut... ORPHA:36426
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pulmonary hypoplasia, Short stature OMIM:615503
Mosaic Trisomy 16
Small for gestational age, Craniofacial asymmetry, Pulmonary hypoplasia, Abnormal lung morphology... ORPHA:1708
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Abnormal lung lobation, Multiple ... ORPHA:2063
Fryns Syndrome
Abnormal helix morphology, Chylothorax, Joint contracture of the hand, Facial hirsutism, Microret... OMIM:229850
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Fryns Syndrome
Congenital diaphragmatic hernia, Micrognathia, Low-set, posteriorly rotated ears, Pulmonary hypop... ORPHA:2059
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Recurrent gastroenteritis, Neutrophilia, Severe periodontitis, Long eyelashes, Umbilic... ORPHA:99843
Osteogenesis Imperfecta
Progressive hearing impairment, Delayed eruption of teeth, Carious teeth, Rhizomelia, Pulmonary h... ORPHA:666
Thanatophoric Dysplasia Type 1
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Hearing impairment, Lethal short-limb... ORPHA:1860
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Sparse hair, Alopecia, Anemia, Interstitial pneumonitis, Aplastic anemia, Carious te... OMIM:127550
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Recurrent bacterial infections, Pneumonia, Exertional dyspnea,... ORPHA:99104
Lysinuric Protein Intolerance
Failure to thrive, Pancreatitis, Sparse hair, Hemophagocytosis, Short stature, Splenomegaly, Resp... OMIM:222700
Vacterl With Hydrocephalus
Inguinal hernia, Retrognathia, Micrognathia, Anotia, Femoral hernia, Pulmonary hypoplasia, Microt... ORPHA:3412
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Large for gestational age, Pulmonary hypoplasia, Hypoplasia of the ... ORPHA:96334
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Weight loss, Abnormal lung morphology, Anemia ORPHA:54251
Lethal Congenital Contracture Syndrome 9
Micrognathia, Pulmonary hypoplasia, Low-set ears, Congenital contracture, Intrauterine growth ret... OMIM:616503
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Short stature, Narrow maxilla, Osteoarthritis, Recurrent lower respiratory tract... OMIM:130000
Pentalogy Of Cantrell
Polysplenia, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele ORPHA:1335
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Farber Disease
Respiratory distress, Failure to thrive, Abnormal epiglottis morphology, Flexion contracture, Nod... ORPHA:333
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Inguinal hernia OMIM:261550
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Microtia, Micrognathia, Laryngeal hypoplasia, Neonatal death, Pulmonar... OMIM:617925
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dens... OMIM:214500
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Malar flattening, Micrognathia, Rhizomelia, Pulmonary hypoplas... ORPHA:50945
Sarcoidosis
Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Scarring, Weight loss, Ab... ORPHA:797
Lysinuric Protein Intolerance
Failure to thrive, Pancreatitis, Hemophagocytosis, Respiratory insufficiency, Recurrent bacterial... ORPHA:470
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Recurrent bacterial infections, Orthopnea, Breathing dysregulation, Pneumonia... ORPHA:99103
Verloove Vanhorick-Brubakk Syndrome
Microtia, Micrognathia, Atresia of the external auditory canal, Low-set ears, Aplasia/Hypoplasia ... ORPHA:3429
Tetrasomy 9P
Infertility, Intrauterine growth retardation, Micrognathia, Oligospermia, Recurrent urinary tract... ORPHA:3310
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Short stature, Lipodystrophy, Recurrent infections, Aspiration, Neonatal respi... OMIM:618922
Smith-Lemli-Opitz Syndrome
Sensorineural hearing impairment, Supernumerary tooth, Congenital diaphragmatic hernia, Short sta... ORPHA:818
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Truncus Arteriosus
Pulmonary edema, Hypoplasia of the thymus, Anomalous origin of one pulmonary artery from ascendin... ORPHA:3384
Loeys-Dietz Syndrome 4
Inguinal hernia, Eosinophilic infiltration of the esophagus, Retrognathia, Emphysema, Pneumothorax OMIM:614816
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Peripheral pulmonary artery stenosis, Inguinal hernia, Emphysema, Bronchiectasi... OMIM:123700
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia, Thrombocytopen... OMIM:612783
Lymphatic Malformation 7
Respiratory distress, Anemia, Pulmonary edema OMIM:617300