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
Highly arched eyebrow, Low-set ears 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, 50
Short sperm flagella, Male infertility, Chronic bronchitis, Reduced sperm motility, Coiled sperm ... OMIM:620356
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Short stature, Recurrent sinusitis, Abnormal central microtubular pair morpholo... OMIM:612649
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper res... ORPHA:922
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Recurr... OMIM:613807
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Short stature, Abnormal central microtubular pair morphol... OMIM:612650
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Recurr... OMIM:617091
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... OMIM:613808
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Recurrent Hae... OMIM:300455
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Absent respiratory ciliary axoneme radial spokes, Infertility, Chronic rh... OMIM:616481
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Rhinitis, Recurrent sinusi... OMIM:615505
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Absent outer dynein arms, Pneumonia, Male infertility, Recurrent otitis med... OMIM:612444
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Sinusitis, Recurrent sinusitis, Abnormal respiratory motile c... OMIM:610852
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Recurrent otitis media, Recurrent bronchitis, Infertility, Recurrent si... OMIM:613193
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Dynein arm defect of respiratory motile cilia, Bronchie... OMIM:614679
Isolated Agammaglobulinemia
Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte mo... ORPHA:229717
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Red... OMIM:615500
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Recurrent otitis media, Chronic bronchitis, Rhinitis,... OMIM:614874
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Recurrent sinusitis, Chronic sinusitis, Abnormal respiratory motile cilium ... OMIM:612518
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Short stature, Failure to thrive, Recurrent respiratory infections, Recur... OMIM:616022
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Chronic rhini... OMIM:611884
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
X-Linked Agammaglobulinemia
Chronic otitis media, Sensorineural hearing impairment, Skin rash, Sinusitis, Recurrent cutaneous... ORPHA:47
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Absent inne... OMIM:618801
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Male infertility, Atelectasis, Absent frontal sin... OMIM:244400
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiect... OMIM:604571
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Splenomegaly, Cellulitis, Neutropenia, Abnormal ly... ORPHA:47612
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Atelectasis, Pulmonary situs ambi... ORPHA:244
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Re... ORPHA:397596
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Recurrent otitis media, Nasal polyposis, Bronchiectasis, Recurrent resp... OMIM:616037
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Absent outer dynein arms, Chronic rhinitis, Bronchiectasis, Chronic sinusitis OMIM:614017
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Skin rash, T lymphocytopenia,... ORPHA:572
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Infertility, Conductive hearing impairment, Rhinitis, Bronchiectasis, Absen... OMIM:618063
Ciliary Dyskinesia, Primary, 2
Infertility, Nasal polyposis, Sinusitis, Hearing impairment, Otitis media, Bronchiectasis, Recurr... OMIM:606763
Immunodeficiency 32B
BCGitis, Anemia, Recurrent infections, Bronchiectasis, Sinusitis, Failure to thrive, Eosinophilia... OMIM:226990
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Bronchi... OMIM:614935
Lethal Congenital Contracture Syndrome 11
Retrognathia, Elbow flexion contracture, Camptodactyly, Pulmonary hypoplasia, Distal arthrogrypos... OMIM:617194
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Abnormal pinna morphology, Skin ra... ORPHA:33110
Immunodeficiency 102
Sepsis, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropenia in p... OMIM:301082
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Sinusitis, Failure to ... ORPHA:277
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Recurrent infections, Sparse eyebrow, Sparse scalp hair, Abnormal respiratory motile cilium morph... OMIM:225050
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Abnormal T cell count, Abnormal B cell count, Recurrent bacteri... OMIM:613495
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Cyclic Neutropenia
Perianal abscess, Sepsis, Recurrent tonsillitis, Periodontitis, Decreased eosinophil count, Lymph... ORPHA:2686
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Infertility, Nasal polyposis, Rhinitis, Recurrent sinusitis, Reduced sper... OMIM:615444
Scedosporiosis
Unusual skin infection, Sepsis, Pulmonary tuberculosis, Pleuritis, Opportunistic fungal infection... ORPHA:449280
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infe... OMIM:613502
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Retrognathia, Low-set, posteriorly rotated ears, Camptodactyly of finger,... ORPHA:2631
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Nasal polyposis, Chronic rhinitis, Sinusitis, I... OMIM:242670
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Recu... OMIM:612692
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, Knee flexion contractur... OMIM:616531
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Microcephalic sperm head, Absent ... OMIM:301101
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ankle flexion contracture, Retrognathia, Elbow flexion contracture, Camptodactyly, Hi... OMIM:617468
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Prostatitis, Pyoderma, Recurrent otitis media, Recurrent urinary tract infection... OMIM:307200
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory ... ORPHA:70593
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Immunodeficiency 61
Recurrent otitis media, Obesity, Recurrent sinusitis, Recurrent respiratory infections, Recurrent... OMIM:300310
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Anemia... OMIM:620321
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Chr... OMIM:617092
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Azoospermia, Infertility, Chronic rhinitis, Chronic sinusitis OMIM:618300
Aspergillosis
Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Pleural effusion, Meni... ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Neonatal death, Pulmonary hypoplasia OMIM:614096
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Recurrent apht... OMIM:614868
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Neutropenia, Recurrent lower respiratory trac... OMIM:613501
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Whim Syndrome
Sepsis, Atelectasis, Severe periodontitis, Parotitis, Lymphopenia, Lymphadenitis, Abnormal neutro... ORPHA:51636
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti... OMIM:613179
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Neonatal death, Pulmonary hypoplasia OMIM:615524
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm... ORPHA:443811
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Abnormal T cell co... OMIM:613493
Specific Granule Deficiency 2
Amelogenesis imperfecta, Sepsis, Recurrent otitis media, Anemia, Abnormal pinna morphology, Hirsu... OMIM:617475
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Bronchiectasis, Sinusitis, Failure to thrive, Short stature, T lymphocytopenia, Mic... OMIM:242860
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Abnormal T cell count, Recurrent bacterial infections OMIM:613494
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Hearing impairment, Pulmonary hypoplasia, Flexion contracture, Intr... OMIM:616733
Granulomatosis With Polyangiitis
Chronic otitis media, Subglottic stenosis, Pleuritis, Granulomatosis, Localized pulmonary hemorrh... OMIM:608710
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Recurrent upper r... OMIM:608184
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, Lymphopenia, Nasal polyposis, Bronchiectasis, T lympho... OMIM:615518
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Fusariosis
Onychomycosis, Sinusitis, Unusual CNS infection, Lymphopenia, Cellulitis, Neutropenia, Hypersensi... ORPHA:228119
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Pharyngitis, Cellulitis, Myocarditis, In... ORPHA:36234
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia OMIM:619003
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory in... OMIM:613500
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Chronic otitis media, Recurrent respiratory infections, Atelectasis OMIM:619466
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bacterial infections, Re... OMIM:613779
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Recurrent bronchit... OMIM:607594
Yellow Nail Syndrome
Yellow nails, Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Bronchiectasis, Recurrent res... ORPHA:662
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Nasal polyposis, Sinusitis, Endocarditis, Abnormal p... ORPHA:183
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele ORPHA:2141
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Failure ... ORPHA:911
Lig4 Syndrome
Pancytopenia, Failure to thrive, Acute lymphoblastic leukemia, Low anterior hairline, Thrombocyto... OMIM:606593
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Persistent CMV viremia, Persistent EBV viremia, Recurrent bronchitis, Aut... OMIM:300853
Whim Syndrome 1
Bronchiectasis, Neutropenia, Recurrent bacterial infections, Recurrent upper respiratory tract in... OMIM:193670
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Abnormal T cell count, Recurrent pneumonia, Recurre... OMIM:240500
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Recurrent ... ORPHA:486
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Cystic Fibrosis
Pneumothorax, Nontuberculous mycobacterial pulmonary infection, Male infertility, Decreased body ... ORPHA:586
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Infertility, Atelectasis OMIM:615872
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, T lymphocytopenia, Cellulitis, Psoriasiform dermatitis, Decrea... OMIM:606367
Larsen-Like Syndrome, Lethal Type
Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurre... OMIM:615067
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Short stature, Growth delay, Micrognathia, Pulmonary hypoplasia,... OMIM:300978
Immunodeficiency 20
BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i... OMIM:615707
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Retrognathia, Low-set ears, Omphalocele,... OMIM:263210
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Recurrent sinusitis, Bronchiectasis, Immotile sperm OMIM:618449
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Leukopenia, Impair... ORPHA:811
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Flexion contracture OMIM:616867
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Weight loss ORPHA:1164
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Recurrent opportunistic infections, Decreased proportion of CD3... ORPHA:276
Rheumatic Fever
Myocarditis, Recurrent pharyngitis, Arthritis, Sinusitis, Pericarditis, Abnormal pleura morpholog... ORPHA:3099
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tract i... OMIM:209920
Immunodeficiency 35
Recurrent fungal infections, Recurrent respiratory infections, Recurrent mycobacterial infections... OMIM:611521
Alg3-Cdg
Recurrent infections, Abnormal pinna morphology, Hearing impairment, Pulmonary hypoplasia, Lipody... ORPHA:79321
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R... OMIM:620438
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Low-set ears, Omphalocele, Pulmonary hypoplasia, Testicular atrophy OMIM:601163
Atelosteogenesis, Type Ii
Stillbirth, Micrognathia, Pulmonary hypoplasia, Malar flattening OMIM:256050
Achondrogenesis Type 2
Hearing impairment, Pulmonary hypoplasia, Short stature ORPHA:93296
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Good Syndrome
Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Thrombocyto... ORPHA:169105
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent... OMIM:242700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Recurrent otitis media, Chronic mucocutaneous candidiasis, Increased B cell count... ORPHA:98813
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Increased connective tissue OMIM:255320
Mucopolysaccharidosis Type 6
Chronic otitis media, Sinusitis, Hearing impairment, Failure to thrive, Splenomegaly, Recurrent u... ORPHA:583
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Recurrent sinusitis, Thromb... OMIM:613101
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Amelogenesis imperfecta, Sepsis, Recurrent viral infections, Thrombocytopen... ORPHA:169090
Microsporidiosis
Bronchitis, Cachexia, Sinusitis, Pharyngitis, Myocarditis, Cholangitis, Thyroiditis, Bronchioliti... ORPHA:2552
Ehlers-Danlos Syndrome, Classic Type, 2
Hernia, Atrophic scars, Recurrent sinusitis, Cigarette-paper scars OMIM:130010
Chronic Granulomatous Disease
Sepsis, Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Splenomegaly, Otit... ORPHA:379
Leukocyte Adhesion Deficiency
Perianal abscess, Nail dystrophy, Severe periodontitis, Sinusitis, Intrauterine growth retardatio... ORPHA:2968
Primary Pulmonary Hypoplasia
Pneumothorax, Low-set ears, Failure to thrive, Micrognathia, Pulmonary hypoplasia, Intrauterine g... ORPHA:2257
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility, Recurrent sinusitis, Bronchiectasis, Recurrent respirator... OMIM:300991
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Low-set ears, Neonatal death, Pulmonary hypoplasia, Microretrognathia, Arthrogryposis... OMIM:236500
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Lethal Congenital Contracture Syndrome Type 1
Short stature, Micrognathia, Pulmonary hypoplasia, Low-set, posteriorly rotated ears ORPHA:1486
Lethal Congenital Contracture Syndrome 1
Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Neonatal death OMIM:253310
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Failure to thrive, Recurrent sinopulmonary infections, ... OMIM:616740
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Recurrent respiratory infections, Autoimmune thromb... OMIM:613496
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Pulmonary artery atresia, Low-set ears, Synophrys, Omphalocele, Underfolde... OMIM:618316
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Low-set ears, Hearing impairment, Pulmonary hypoplasia... ORPHA:2655
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypergonadotropic hypogonadism, Growth delay, Short stature, Hyp... ORPHA:250999
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Pallister-Hall-Like Syndrome
Short stature, Micrognathia, Pulmonary hypoplasia OMIM:241800
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Bone-marrow foam cell... OMIM:607616
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Micrognathia, Anemia, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Small for gestational age ORPHA:70589
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Nasal polyposis, Recurrent sinusitis, Bronchiectasis, Rec... OMIM:620197
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Hearing impairment, Recurrent sinusitis, Recurrent pneumonia, Reduced spe... OMIM:619436
Hypocomplementemic Urticarial Vasculitis
Emphysema, Inflammatory abnormality of the eye, Sensorineural hearing impairment, Skin rash, Arth... ORPHA:36412
Odontochondrodysplasia 1
Mesomelic short stature, Delayed eruption of teeth, Short stature, Pulmonary hypoplasia, Dentinog... OMIM:184260
Wiskott-Aldrich Syndrome
Chronic otitis media, Sinusitis, Abnormal platelet morphology, Lymphopenia, Neutropenia, Abnormal... ORPHA:906
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumon... OMIM:608647
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Minimal change glomerulonephritis, Myositis,... OMIM:620565
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Failure to thrive, Severe B ly... OMIM:603554
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... OMIM:618699
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Recurrent bacterial skin i... ORPHA:217390
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Recurrent sinusitis, Recurrent pneumonia, Recu... OMIM:616576
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Epididymitis, Recurrent bacterial infections OMIM:608106
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Hypophosphatasia
Short stature, Failure to thrive in infancy, Emphysema, Anemia ORPHA:436
Immunodeficiency 12
Cheilitis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Skin rash... OMIM:615468
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Agnathia-Otocephaly Complex
Synotia, Low-set ears, Mandibular aplasia, Hypoplasia of the epiglottis, Laryngeal hypoplasia, Co... OMIM:202650
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Splenomegaly, Panacinar emphysema OMIM:613490
Reticular Dysgenesis
Chronic otitis media, Sepsis, Anemia, Skin rash, Hearing impairment, Failure to thrive, Leukopeni... ORPHA:33355
Zygomycosis
Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Cellulitis, Neutropenia, Myocarditi... ORPHA:73263
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Recurrent otitis media, Recurrent b... OMIM:251260
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Low-set ears, Micrognathia, Pulmonary hypoplasia, Flexion contracture, Posterio... OMIM:616897
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Cleidocranial Dysplasia
Chronic otitis media, Supernumerary tooth, Dystrophic fingernails, Delayed eruption of teeth, Abn... ORPHA:1452
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Micrognathia, Neonatal death, Pulmonary hypoplasia, Se... OMIM:224410
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, ... OMIM:615482
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus m... ORPHA:306741
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Erythema nodosum, Pleural ef... OMIM:612387
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent lower respiratory tract infections... OMIM:615559
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Ataxia-Telangiectasia
Delayed puberty, Recurrent lower respiratory tract infections, Abnormal hair morphology, Recurren... OMIM:208900
Birt-Hogg-Dubé Syndrome
Pneumothorax, Multiple lipomas, Pulmonary sequestration, Emphysema ORPHA:122
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Recurrent infections, Chronic mucocutaneous can... OMIM:618282
Kagami-Ogata Syndrome
Retrognathia, Inguinal hernia, Laryngomalacia, Microtia, Omphalocele, Frontal hirsutism, Hypoplas... OMIM:608149
Mucopolysaccharidosis Type 1
Chronic otitis media, Inguinal hernia, Sensorineural hearing impairment, Sinusitis, Hearing impai... ORPHA:579
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Short stature, Recurrent viral... ORPHA:420741
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin... OMIM:614379
Gaucher Disease, Perinatal Lethal
Retrognathia, Anemia, Microtia, Low-set ears, Decreased body weight, Micrognathia, Neonatal death... OMIM:608013
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Anemia, Myositis, Arthritis, Skin rash, Recurrent infections, Lymphopenia, Sinusiti... OMIM:617591
Fetal Akinesia Deformation Sequence
Arthrogryposis multiplex congenita, Camptodactyly of finger, Micrognathia, Pulmonary hypoplasia, ... ORPHA:994
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Micrognathia, Pulmonary hypoplasia, Flexion contracture, Intrauterine growth retard... OMIM:312150
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Tetrasomy 5P
Postnatal growth retardation, Low-set ears, Failure to thrive, Micrognathia, Pulmonary hypoplasia... ORPHA:3309
Netherton Syndrome
Trichorrhexis nodosa, Emphysema, Abnormal hair morphology, Recurrent infections, Skin rash, Spars... ORPHA:634
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hepatosplenomegal... OMIM:607624
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Emphysema, Atelectasis, Inguinal hernia, Accessory spleen, Morgagni diaphragmatic h... OMIM:613177
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Anemia, Superficial dermal perivascular inflammatory infiltrate, T ... OMIM:620632
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Micrognathia, Pulmonary hypoplasia, Splenomegaly, Intrauterine growth retardation ORPHA:3035
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Persistent EBV viremia, Recurrent sin... OMIM:620282
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Low-set ears, Abnormal spleen morphology, Abnormal lung morpholo... ORPHA:2470
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Atelectasis, Recurrent Staphylococ... OMIM:306400
Immunodeficiency 10
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Recurrent i... OMIM:612783
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:2140
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Leukocytosis, Atopic dermatitis, Wei... ORPHA:2902
Marden-Walker Syndrome
Postnatal growth retardation, Inguinal hernia, Low-set ears, Camptodactyly, Congenital contractur... OMIM:248700
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Pleuritis, Inflammatory abnormality of the eye, ... ORPHA:900
Cystic Fibrosis
Male infertility, Pancreatitis, Nasal polyposis, Recurrent bronchopulmonary infections, Failure t... OMIM:219700
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Failure to thrive, Recurrent pneumonia, Recurrent upper re... ORPHA:60032
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... ORPHA:254361
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Sensorineural hearing impairm... OMIM:615816
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Bilateral lung agenesis, Inguinal hernia,... OMIM:601186
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Renal Hypodysplasia/Aplasia 1
Low-set ears, Retrognathia, Pulmonary hypoplasia, Primary amenorrhea OMIM:191830
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Micrognathia, Pulmonary hypoplasia, Flexion contracture, Intrauterine growth retard... OMIM:253290
Distal Triplication 15Q
Large for gestational age, Retrognathia, Sensorineural hearing impairment, Microtia, Abnormal hel... ORPHA:314588
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Pulmonary hypoplasia, Malar flattening, Disproportionate short-limb short stature ORPHA:85166
Febrile Infection-Related Epilepsy Syndrome
Sinusitis ORPHA:163703
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Neonatal sepsis, Sensorineural hearing impairment, Leukopenia, Splenomegaly, Ly... OMIM:612541
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Chronic infection, Pulmona... ORPHA:2357
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sepsis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tra... OMIM:308230
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Inflammation of the large intestine, Micrognathia, Pulmonary hypoplasia, Knee flexio... OMIM:619708
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Respiratory infections in early life, Premature ovarian insufficien... ORPHA:96179
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening... ORPHA:79126
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Choanal Atresia
Laryngomalacia, Recurrent respiratory infections, Subglottic stenosis, Chronic sinusitis ORPHA:137914
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Omphalocele, Short stature, Micrognathia, Natal tooth, Pulmonary hypoplasi... OMIM:145420
Achondrogenesis
Inguinal hernia, Micrognathia, Severe short stature, Umbilical hernia, Aplasia/Hypoplasia of the ... ORPHA:932
Bone Marrow Failure Syndrome 4
Rhizomelia, Anemia, Low-set ears, Eczematoid dermatitis, Short stature, Thrombocytopenia, Leukope... OMIM:618116
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:615481
Mirage Syndrome
Sepsis, Anemia, Recurrent urinary tract infections, Decreased body weight, Aspiration pneumonia, ... OMIM:617053
Achondrogenesis Type 1B
Femoral hernia, Micrognathia, Severe short stature, Umbilical hernia, Disproportionate short stat... ORPHA:93298
Common Variable Immunodeficiency
Chronic otitis media, Posterior pharyngeal cleft, Emphysema, Recurrent bronchitis, Bronchiectasis... ORPHA:1572
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Neonatal death, Pulmonary hypoplasia, Disproportionate short-l... OMIM:187600
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Absent platelet dense granules, Recurrent ... OMIM:608233
Severe Congenital Nemaline Myopathy
Low-set ears, Pulmonary hypoplasia, Flexion contracture, Increased connective tissue, Arthrogrypo... ORPHA:171430
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Tularemia
Anemia, Inflammatory abnormality of the eye, Erythema nodosum, Skin rash, Pleural effusion, Leuko... ORPHA:3392
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Keutel Syndrome
Recurrent otitis media, Emphysema, Recurrent bronchitis, Cartilaginous ossification of larynx, Ca... OMIM:245150
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Pulmonary hypoplasia, Omphalocele OMIM:617895
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Microtia, Short stature, Micrognathia, Malar flattening, Intrauter... ORPHA:2145
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Growth delay ORPHA:139466
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Recurrent respiratory infections, Meningitis, Absent ... OMIM:619707
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Dystrophic fingernails, Atelectasis, Abnormal hair morphology, Recurrent in... ORPHA:2314
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage, Recurrent bacterial infections, Ne... OMIM:603585
Esophageal Atresia
Subglottic stenosis, Aspiration, Bronchitis, Laryngeal cleft, Esophagitis, Omphalocele, Hearing i... ORPHA:1199
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit... OMIM:614700
Genitopatellar Syndrome
Delayed eruption of teeth, Low-set ears, Sparse scalp hair, Hearing impairment, Short stature, Hi... ORPHA:85201
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Low-set ears, Camptodactyly of finger, Micrognathia, Abnormal pleura morphology, Intrauterine gro... ORPHA:2570
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Failure to thrive, Rec... OMIM:601495
Bloom Syndrome
Retrognathia, Cheilitis, Bronchitis, Skin rash, Severe varicella zoster infection, Intrauterine g... ORPHA:125
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Recurrent otitis media OMIM:608644
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Fragile X Syndrome
Chronic otitis media, Mandibular prognathia, Sinusitis, Macrotia, Otitis media, Protruding ear ORPHA:908
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Emphysema OMIM:210050
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Low-set ears, Low posterior hairline, Hearing impairment, Camptodactyly of finge... ORPHA:2990
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Abnormal lung morphology, Nephritis, Eosinophilia ORPHA:449427
Atelosteogenesis Type I
Rhizomelia, Laryngotracheal stenosis, Neonatal short-trunk short stature, Low-set ears, Micrognat... ORPHA:1190
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Flexion contracture, Microretrognathia OMIM:616866
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Diaphanospondylodysostosis
Inguinal hernia, Low-set ears, Micrognathia, Pulmonary hypoplasia, Disproportionate short-trunk s... OMIM:608022
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Microtia, Low-set ears, Short stature, Sparse eyebrow, Pulmonary... OMIM:612530
Czeizel-Losonci Syndrome
Hypoplastic helices, Low-set, posteriorly rotated ears, Hypoplastic nipples, Aplasia of the left ... ORPHA:2437
Achondrogenesis Type 1A
Femoral hernia, Micrognathia, Severe short stature, Umbilical hernia, Aplasia/Hypoplasia of the l... ORPHA:93299
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Recurrent viral infections, Thrombocy... ORPHA:169079
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Pneumocystis jirovecii pneumonia, Recurrent infections, Fail... OMIM:615207
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Stillbirth, Rhizomelia, Low-set ears, Pulmonary hypoplasia OMIM:151210
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hirsutism, Low-set ears, Micrognathia, Pulmonary hypoplasia, Flexion contracture, Posteriorly rot... ORPHA:1865
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Asplenia OMIM:615415
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Intrauterine growth retardation, Aspiration pneumonia ORPHA:70588
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Micro... ORPHA:958
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Nail dystrophy, Emphysema, Anemia, Lymphopenia, Thrombocytopenia, Pulm... OMIM:620365
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Recurrent s... OMIM:619281
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Pulmonary hypoplasia OMIM:602088
Congenital Myopathy 17
Mandibular prognathia, Low-set ears, Pulmonary hypoplasia, Respiratory tract infection, Distal ar... OMIM:618975
Short-Rib Thoracic Dysplasia 12
Atelectasis, Inguinal hernia, Abnormal pinna morphology, Hypoplastic nipples, Low-set ears, Ompha... OMIM:269860
Laryngotracheoesophageal Cleft
Aspiration, Recurrent respiratory infections, Laryngeal cleft, Laryngomalacia ORPHA:2004
Meier-Gorlin Syndrome 4
Breast hypoplasia, Emphysema, Microtia, Low-set ears, Short stature, Failure to thrive, Hypoplasi... OMIM:613804
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Camptodactyly, Hearing impairment, Short s... OMIM:619148
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Congenital Tracheomalacia
Pneumothorax, Emphysema, Laryngomalacia, Bronchiectasis, Failure to thrive, Pulmonary hypoplasia,... ORPHA:95430
Waardenburg Syndrome Type 3
Atelectasis, White hair, Hearing impairment, Camptodactyly of finger, Thick eyebrow ORPHA:896
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Short stature, Failure to thrive, Enterocolitis, Thrombocytopeni... OMIM:616050
Lethal Congenital Contracture Syndrome 10
Low-set ears, Hypoplasia of the thymus, Omphalocele, Micrognathia, Pulmonary hypoplasia, Intraute... OMIM:617022
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Histiocytosis, Hepatosplenomegaly, Splenomegaly, ... OMIM:209950
Agammaglobulinemia, X-Linked
T lymphocytopenia, Recurrent sinusitis, Neutropenia, Bronchiolitis obliterans, Pyoderma, Enterovi... OMIM:300755
Boomerang Dysplasia
Severe short-limb dwarfism, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:1263
Metatropic Dysplasia
Camptodactyly of finger, Severe short stature, Low-set, posteriorly rotated ears, Aplasia/Hypopla... ORPHA:2635
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Low-set ears, Pulmonary artery stenosis... OMIM:611812
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia, Laryngeal atresia OMIM:314390
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmonary sequestration, Pulm... ORPHA:2847
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, Prominent stem of antihelix, B lymphocytopenia, Increased proportion of eff... OMIM:619824
Raine Syndrome
Mixed hearing impairment, Highly arched eyebrow, Abnormal pinna morphology, Mandibular prognathia... OMIM:259775
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Pleuritis, Arteritis, Thyroiditis, Meningitis,... ORPHA:449395
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Microcephaly-Micromelia Syndrome
Low-set ears, Micrognathia, Neonatal death, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:251230
Achondroplasia
Neonatal short-limb short stature, Recurrent otitis media, Rhizomelia, Conductive hearing impairm... OMIM:100800
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Increased red blood cell count, Sinusitis, Pustule, Respiratory tract inf... ORPHA:68
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Pulmonary hypoplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Fine hair OMIM:614091
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Skin rash, Decreased proportion of memory B cells, Failure to thrive, Recurren... OMIM:618048
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233710
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Recurrent pneumonia, Polysplenia, Chronic sinusitis OMIM:620642
Autosomal Recessive Amelia
Micrognathia, Aplasia/Hypoplasia of the lungs ORPHA:1027
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Tarp Syndrome
Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Small earlobe, Extramedullary h... ORPHA:2886
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Sensorineural hearing impairment, Microtia, Abnormality of the middle ear ... ORPHA:2549
Bone Marrow Failure Syndrome 5
Nail dystrophy, Anemia, Erythroid hypoplasia, Short stature, Growth delay, Pure red cell aplasia,... OMIM:618165
Jeune Syndrome
Short stature, Aplasia/Hypoplasia of the lungs ORPHA:474
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pancreatitis, Splenic cyst, Highly arched eyebrow, Mandibular prognathia, Pulmonary ... OMIM:620371
Farber Disease
Abnormal larynx morphology, Abnormal epiglottis morphology, Atelectasis, Anemia, Arthritis, Short... ORPHA:333
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233690
Chromomycosis
Abnormal lung morphology, Keratitis, Atypical scarring of skin, Recurrent bacterial infections, K... ORPHA:182
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Mixed hearing impairment, Atelectasis, Repeated pneumothoraces, Atr... ORPHA:536467
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Recurrent infections, Elbow flexion contracture, Low-set ears, Campto... OMIM:601559
Neu-Laxova Syndrome
Retrognathia, Abnormal hair morphology, Abnormal eyelash morphology, Macrotia, Micrognathia, Pulm... ORPHA:2671
Immunodeficiency 84
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... OMIM:619437
Ogden Syndrome
Umbilical hernia, Intrauterine growth retardation, Fine hair, Inguinal hernia, Aspiration, Pulmon... OMIM:300855
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Shoulder flexion contracture, Elbow flexion contracture, Pleural effusion, Low-set ... OMIM:620369
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Neonatal death, Pulmonary hypoplasia OMIM:231680
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral sensorineur... OMIM:611102
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Low-set ears, Omphalocele, Hearing impairment, Camptodactyly of finger... ORPHA:90652
Poikiloderma With Neutropenia
Retrognathia, Nail dystrophy, Recurrent otitis media, Skin rash, Low posterior hairline, Recurren... OMIM:604173
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Anemia, Abnormal natural killer cell count, Pancytopenia, Recurrent ... ORPHA:79124
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Abnormality of the te... ORPHA:258
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Keutel Syndrome
Recurrent otitis media, Pulmonary artery stenosis, Hearing impairment, Short stature, Recurrent s... ORPHA:85202
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Abnormality of the sphenoid sinus, Thyroiditis, Neoplasm ... ORPHA:449563
Prune Belly Syndrome
Recurrent urinary tract infections, Failure to thrive, Recurrent respiratory infections, Decrease... ORPHA:2970
Tetraploidy
Intrauterine growth retardation, Micrognathia, Hypoplasia of the ear cartilage, Aplasia/Hypoplasi... ORPHA:3305
Oligomeganephronia
Congenital diaphragmatic hernia, Pulmonary venous occlusion, Hearing impairment, Micrognathia, Pu... ORPHA:2260
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Abnormal pinna morphology, Elbow flexion contracture, Pulmonary ... ORPHA:1692
Atelosteogenesis Type Ii
Rhizomelia, Elbow flexion contracture, Low-set ears, Rhizomelic arm shortening, Camptodactyly, La... ORPHA:56304
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Large for gestational age, Low-set ears, Micrognathia, Pulmonary... OMIM:614080
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Anemia, Malar rash, Myositis, Skin rash, Recurrent infections, Lymphopenia, Pustu... OMIM:615934
Peroxisome Biogenesis Disorder 1A (Zellweger)
Sensorineural hearing impairment, Abnormal helix morphology, Low-set ears, Hearing impairment, Fa... OMIM:214100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Atelectasis, Recurrent infections, Leukocytosis, Reticulocytosis, Poiki... OMIM:618278
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Inguinal hernia, Multiple unerupted teet... ORPHA:2063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Premature graying of hair, Aplastic anemia, Reticular pattern on pulmonary HRCT, Anemia, Pancytop... OMIM:614742
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Arthritis, B lymphocytopenia, Recurrent urinary tract infections, Recur... ORPHA:221139
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Retrognathia, Rhizomelia, Disproportionate short-limb short s... OMIM:215140
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Skin rash, Recurrent bacterial skin infections, Splenomegaly, Neut... ORPHA:167
Nocardiosis
Pericarditis, Unusual CNS infection, Cellulitis, Thyroiditis, Weight loss, Conjunctivitis, Pneumo... ORPHA:31204
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Pulmonary sequestration, Pulmonary artery hypoplasia, Abnormal l... ORPHA:185
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Rhizomelia, Omphalocele, Macrotia, Sparse eyebrow, Hypoplastic facial bones, Pulmonar... OMIM:616300
Meckel Syndrome 14
Pneumothorax, Retrognathia, Low-set ears, Micrognathia, Pulmonary hypoplasia, Microretrognathia OMIM:619879
Alpha-1-Antitrypsin Deficiency
Panniculitis, Emphysema, Bronchitis, Bronchiectasis, Hepatitis ORPHA:60
Omenn Syndrome
Sepsis, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Failure ... ORPHA:39041
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Acrocephalopolydactylous Dysplasia
Extrapulmonary lobar sequestration, Abnormal pinna morphology, Low-set ears, Omphalocele, Pulmona... OMIM:200995
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Prolidase Deficiency
Anemia, Facial hirsutism, Recurrent infections, Low posterior hairline, Eczematoid dermatitis, Fa... OMIM:170100
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis OMIM:601612
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Inguinal hernia, Knee flexion contracture, Hypoplastic nipples, ... OMIM:265000
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections... OMIM:615577
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Cholangitis, Recurrent urinary tract infections, Low-set ears, Spontaneous pneum... ORPHA:731
Tempi Syndrome
Abnormality of the pulmonary vasculature, Polycythemia, Transudative pleural effusion, Increased ... ORPHA:284227
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Neonatal death, Atelectasis OMIM:300219
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Recurrent infect... OMIM:613011
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Acute lymphoblastic leukemia, Re... OMIM:610738
Meacham Syndrome
Stillbirth, Cardiac total anomalous pulmonary venous connection, Accessory spleen, Scimitar anoma... OMIM:608978
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Recurrent viral infections, Recurr... OMIM:616873
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Recurrent otitis media, Anemia, Inguinal hernia, Pancytopenia, Recurre... OMIM:620331
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Inflammatory abn... ORPHA:238468
Thanatophoric Dysplasia Type 2
Hearing impairment, Aplasia/Hypoplasia of the lungs, Short stature ORPHA:93274
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Hearing impairment, Short stature, Micrognathia, Pulmonary hypoplasia, Flexion contra... OMIM:308050
Mosaic Trisomy 16
Hearing impairment, Abnormal lung morphology, Craniofacial asymmetry, Pulmonary hypoplasia, Intra... ORPHA:1708
Orofaciodigital Syndrome Type 4
Retrognathia, Bilateral lung agenesis, Laryngomalacia, Microtia, third degree, Low-set ears, Grow... ORPHA:2753
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Verloove Vanhorick-Brubakk Syndrome
Microtia, Low-set ears, Atresia of the external auditory canal, Micrognathia, Aplasia/Hypoplasia ... ORPHA:3429
Vacterl With Hydrocephalus
Retrognathia, Inguinal hernia, Microtia, third degree, Femoral hernia, Micrognathia, Pulmonary hy... ORPHA:3412
Achondrogenesis, Type Ia
Low-set ears, Stillbirth, Pulmonary hypoplasia, Disproportionate short-trunk short stature OMIM:200600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Failure to thrive, Pulmonary hypoplasia OMIM:615503
Microscopic Polyangiitis
Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritonitis, Increased... ORPHA:727
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Helicobacter pylori infection, Lymphopenia, ... ORPHA:2688
Meier-Gorlin Syndrome 7
Meconium peritonitis, Breast aplasia, Sensorineural hearing impairment, Microtia, Low-set ears, D... OMIM:617063
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe varicella zoster infection, Bacterial endocard... ORPHA:48435
Alg9-Cdg
Abnormal lung lobation, Rhizomelia, Low-set, posteriorly rotated ears, Hypoplasia of the ovary, H... ORPHA:79328
Fryns Syndrome
Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Omphalocele, Micrognathia, Pu... ORPHA:2059
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Joubert Syndrome 21
Sensorineural hearing impairment, Pulmonary hypoplasia, Splenomegaly, Chronic sinusitis OMIM:615636
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c... OMIM:614892
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent skin infections, Extram... OMIM:612840
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Severe cytomegalovirus infection, Sepsis, Recurrent bacterial infect... OMIM:619573
Immunodeficiency 70
B lymphocytopenia, Furuncle, Recurrent sinusitis, Decreased proportion of CD4-positive helper T c... OMIM:618969
Fontaine Progeroid Syndrome
Retrognathia, Low posterior hairline, Recurrent aspiration pneumonia, Umbilical hernia, Intrauter... OMIM:612289
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Polysplenia, Omphalocele ORPHA:1335
Meier-Gorlin Syndrome 6
Delayed puberty, Emphysema, Laryngomalacia, Microtia, Conductive hearing impairment, Failure to t... OMIM:616835
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Multiple non-erupting secondary teeth, R... OMIM:620277
Vici Syndrome
Postnatal growth retardation, Hypopigmentation of hair, Sensorineural hearing impairment, Chronic... OMIM:242840
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Microtia, Omphalocele, Short stature, Micrognathia, Abnormality ... ORPHA:1834
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Distal Deletion 15Q
Congenital diaphragmatic hernia, Postnatal growth retardation, Low-set ears, Hearing impairment, ... ORPHA:1596
Dpagt1-Cdg
Anemia, Camptodactyly, Hearing impairment, Failure to thrive, Pulmonary hypoplasia, Flexion contr... ORPHA:86309
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Retrognathia, Inguinal hernia, Seborrheic dermatitis, B lymphocytop... ORPHA:83617
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Abnormal lung morphology, Neutrophilia, Weight loss, Brain abscess ORPHA:54251
Emanuel Syndrome
Congenital diaphragmatic hernia, Chronic oral candidiasis, Recurrent otitis media, Inguinal herni... OMIM:609029
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Low-set ears, Micrognathia, Natal tooth, Pulmonary... ORPHA:50945
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Recurrent otitis media, Sepsis, Recurrent pharyngitis, Recurrent bronchitis, Abno... ORPHA:293978
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microtia, Abnormal pinna morphology, Low-set ears, Low posterior hairline, Laryngeal hypoplasia, ... OMIM:617925
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia, Splenomegaly OMIM:263200
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Supernumerary tooth, Advanced eruption o... ORPHA:818
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Recurrent infections, Sensorineural hearing impairment, Pulmonary hypoplasia, Peritonitis, Pyelon... OMIM:619351
Lethal Congenital Contracture Syndrome 9
Low-set ears, Wrist flexion contracture, Congenital contracture, Arthrogryposis multiplex congeni... OMIM:616503
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Abnormal helix morphology, Anomalous pul... ORPHA:1120
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Schinzel-Giedion Syndrome
Retrognathia, Inguinal hernia, Delayed eruption of teeth, Laryngomalacia, Generalized hypertricho... ORPHA:798
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Chronic sinusitis OMIM:619607
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Low-set, posteriorly rotated ears, Inguinal hernia, A... ORPHA:536471
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Recurrent respiratory infections, Nephritis, Pulmonary hypoplasia OMIM:208500
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hyperplasia of the maxilla, Anemia, Malar prominence, Pleu... ORPHA:846
Fryns Syndrome
Stillbirth, Large for gestational age, Facial hirsutism, Chylothorax, Abnormal helix morphology, ... OMIM:229850
Adult-Onset Still Disease
Myocarditis, Anemia, Pleuritis, Arthritis, Skin rash, Leukocytosis, Pharyngitis, Pericarditis, Ar... ORPHA:829
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Bilobed right lung OMIM:612284
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Skin rash, Fulminant hepatitis, Leukocytosis, Severe viral infection, P... ORPHA:319213
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Recurrent sinusitis, Lymp... OMIM:618849
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent lower respiratory tract infections, Inguinal hernia, Cigarette-paper scars, Short statu... OMIM:130000
Fetal Akinesia Deformation Sequence 1
Stillbirth, Low-set ears, Wrist flexion contracture, Congenital contracture, Camptodactyly of fin... OMIM:208150
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Elbow flexion contracture, Low-set ears, Absent nipple, Microgna... OMIM:200980
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... OMIM:300299
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Recurrent lower respiratory tract infections, Anemia, Per... OMIM:615758
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Anemia, Splenomegaly, Recurrent upper respiratory tract infections OMIM:620296
Icf Syndrome
Anemia, Low-set ears, Short stature, Umbilical hernia, Micrognathia, Lymphopenia, Recurrent respi... ORPHA:2268
Diaphragmatic Hernia 4, With Cardiovascular Defects
Recurrent infections, Aortopulmonary window, Low-set ears, Aplasia of the left hemidiaphragm, Pul... OMIM:620025
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Small earlobe, Microtia, Umbilical hernia, Intrauterine growth retardation,... ORPHA:99843
Pagod Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary artery hypoplasia, Short stature, Pulmona... ORPHA:991
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Neonatal death, Pulmonary hypoplasia, Splenomegaly, Polysplenia OMIM:208540
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Proportionate short stature, Carious teeth, Intrauterine growth... OMIM:244460
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Delayed eruption of teeth, Diss... OMIM:300636
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Anomalous origin of right pulmona... ORPHA:99050
Renal Agenesis, Bilateral
Low-set ears, Pulmonary hypoplasia ORPHA:1848
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Aplastic anemia, Abnormal pulmonary interstitial morphology, Nail dyst... OMIM:613990
Tetrasomy 9P
Amelogenesis imperfecta, Abnormal earlobe morphology, Myositis, Abnormal dental enamel morphology... ORPHA:3310
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Skin rash, Abnormal lymphocyte morphology, Rheumatoid arthri... ORPHA:100026
Absence Of The Pulmonary Artery
Pulmonary edema, Growth delay, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurre... ORPHA:980
Osteogenesis Imperfecta
Mixed hearing impairment, Dentinogenesis imperfecta, Umbilical hernia, Intrauterine growth retard... ORPHA:666
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Anemia, Pleural effusion, Meningitis, He... ORPHA:781
Relapsing Polychondritis
Myocarditis, Atelectasis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Sen... ORPHA:728
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Polysplenia, Chronic sinusitis, Reduced progressive sperm motility OMIM:619608
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Ventral hernia, Omphalocele OMIM:313850
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Panniculitis, Recurrent lower respiratory tract infections, Anemia, Delayed eruption of teeth, B ... ORPHA:508542
Restrictive Dermopathy 1
Stillbirth, Absent eyelashes, Temporomandibular joint ankylosis, Low-set ears, Sparse eyelashes, ... OMIM:275210
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Inguinal hernia, Recurrent urinary tract infections, Recurrent pneumonia... ORPHA:90349
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Sensorineural hearing impairment, Eczematoid dermatitis, Failure to thrive... OMIM:619693
Sarcoidosis
Increased T cell count, Leukopenia, Erythema nodosum, Maculopapular exanthema, Abnormal lung morp... ORPHA:797
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Acute leukemia, Emphysema, Abnormal hair morphology, Delayed e... ORPHA:289