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Gene: Cby1 MGI:1920989

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
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, 50
Chronic bronchitis, Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, ... OMIM:620356
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic bronchitis, Re... OMIM:612649
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Abnormal central microtubular pair morphology of respiratory motile cilia, ... OMIM:612650
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor... OMIM:617091
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... OMIM:613808
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Otitis media, Chronic sinus... OMIM:300455
Ciliary Dyskinesia, Primary, 32
Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro... OMIM:616481
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Recurrent otitis media, Dynein arm defect of respiratory motile... OMIM:615505
Ciliary Dyskinesia, Primary, 9
Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron... OMIM:612444
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai... OMIM:620032
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein a... OMIM:610852
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Infe... OMIM:613193
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... OMIM:614679
Isolated Agammaglobulinemia
Pneumonia, Cellulitis, Sepsis, Abnormality of neutrophils, Failure to thrive, Abnormal lymphocyte... ORPHA:229717
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615500
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Ciliary Dyskinesia, Primary, 18
Male infertility, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Immotile sperm... OMIM:614874
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Chronic sinusitis, Chronic otitis media, Recurrent... OMIM:612518
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... OMIM:616022
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... OMIM:611884
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Combined Immunodeficiency, X-Linked
Pneumonia, Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased proportion of CD8-pos... OMIM:312863
X-Linked Agammaglobulinemia
Cellulitis, Sensorineural hearing impairment, Weight loss, Neutropenia, Meningitis, Chronic otiti... ORPHA:47
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiec... OMIM:618801
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Conductive hearing impairment, Atelectasis, Male infertility, Recurre... OMIM:244400
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... OMIM:604571
Felty Syndrome
Cellulitis, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abn... ORPHA:47612
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Nasal polyposis, Bronchiectasis, Conductive hearing impairmen... ORPHA:244
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, ... ORPHA:397596
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respira... OMIM:616037
Ciliary Dyskinesia, Primary, 16
Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis, Absent outer dynein arms OMIM:614017
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Chronic sinusitis, Absent inner and outer dynein a... OMIM:618063
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Nasal polyposis, Hearing impairment, Otitis media, Sinusitis,... OMIM:606763
Immunodeficiency 32B
Pneumonia, Recurrent infections, Failure to thrive, BCGitis, Impaired oxidative burst, Splenomega... OMIM:226990
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Re... OMIM:614935
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Retrognathia, Elbow flexion contracture, Intrauterine growth retardation, Dist... OMIM:617194
Autosomal Agammaglobulinemia
Recurrent infections, Cellulitis, Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infect... ORPHA:33110
Immunodeficiency 102
Recurrent upper respiratory tract infections, Reduced natural killer cell count, Increased propor... OMIM:301082
Selective Igm Deficiency
Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... ORPHA:331235
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe... ORPHA:277
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Recurrent infections, Sparse scalp hair, Sparse eyebrow, Abnormal respiratory motile cilium morph... OMIM:225050
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Abnormal T cell count, Recurrent respiratory infections, Abnormal... OMIM:613495
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf... ORPHA:83471
Cyclic Neutropenia
Cellulitis, Sepsis, Periodontitis, Opportunistic infection, Recurrent tonsillitis, Pharyngitis, L... ORPHA:2686
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent respiratory infections, Reduced sperm motility, Recurrent otitis media... OMIM:615444
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Neutropenia, Abnormal T cell morp... OMIM:613502
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf... ORPHA:449280
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Retrognathia, Abnormal lung lobation, Low-set, posteriorly rotated ears, Camptodactyly of finger,... ORPHA:2631
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Chronic rhinitis, Immotile sperm, Sinusitis, Absent respiratory ciliary axoneme ... OMIM:242670
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Abnormal T cell morphology, Recurrent bronchitis, Ch... OMIM:612692
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Arthrogryposis mult... OMIM:616531
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent pneumonia, Recurrent otitis media, Microceph... OMIM:301101
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Retrognathia, Elbow flexion contracture, Micrognathia, Hip contracture... OMIM:617468
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... 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
Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Hearing impairment, Enterovir... OMIM:307200
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, Recurrent bacterial meni... 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 bacterial infections, Recurrent r... OMIM:300310
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... OMIM:620321
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, ... OMIM:617092
Ciliary Dyskinesia, Primary, 40
Azoospermia, Chronic sinusitis, Chronic rhinitis, Infertility, Absent outer dynein arms OMIM:618300
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Osteomyelitis, Invasive pulmonary aspergi... ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Failure to thrive, Pulmonary hypoplasia OMIM:614096
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Ch... OMIM:614868
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neut... OMIM:613501
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Whim Syndrome
Pneumonia, Cellulitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphad... ORPHA:51636
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t... OMIM:613179
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Congenital diaphragmatic hernia, Neonatal death, Pulmonary hypoplasia OMIM:615524
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Lymphopenia, Esophagitis, ... ORPHA:443811
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Specific Granule Deficiency 2
Low-set ears, Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent b... OMIM:617475
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Pneumonia, Reduced natural killer cell count, Failure to thrive, Micrognathia, Mala... OMIM:242860
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Dec... OMIM:243700
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Cachexia, Ac... ORPHA:60033
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Postnatal growth retardation, Intrauterine growth retardation, Flexion contra... OMIM:616733
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:608710
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent oti... OMIM:615518
Immunodeficiency 15A
Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou... OMIM:618204
Fusariosis
Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Osteomyel... ORPHA:228119
Bacterial Toxic-Shock Syndrome
Cellulitis, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, P... ORPHA:36234
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren... OMIM:616726
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:619003
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo... OMIM:613500
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit... OMIM:607594
Yellow Nail Syndrome
Yellow nails, Recurrent respiratory infections, Sinusitis, Rhinitis, Pleuritis, Bronchiectasis, N... ORPHA:662
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Abnormal pleura morphology, Skin rash, Increased inflammatory response, Myositis... ORPHA:183
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Lig4 Syndrome
Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Low anterior hairlin... OMIM:606593
Immunodeficiency 112
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... OMIM:620449
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Recurrent otitis media, Decreased CD4:CD8 rat... OMIM:300853
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... OMIM:193670
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchitis, Recurre... OMIM:240500
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Cellulitis, Recurrent viral infections, Periodontitis, Aplastic anemia, Pharyngitis, L... ORPHA:486
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent viral infections,... OMIM:102700
Cystic Fibrosis
Nasal polyposis, Decreased body mass index, Hearing impairment, Failure to thrive, Recurrent Burk... ORPHA:586
Ciliary Dyskinesia, Primary, 29
Infertility, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Recurrent viral infections, Hepatosplenomegaly, Psoriasiform dermatitis, Decreased CD... OMIM:606367
Larsen-Like Syndrome, Lethal Type
Neonatal death, Laryngomalacia, Pulmonary hypoplasia OMIM:245650
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Decreased fertility, Recurrent sinusiti... OMIM:615067
Immunodeficiency 20
Reduced natural killer cell count, BCGitis, Recurrent otitis media, Recurrent viral upper respira... OMIM:615707
Tonne-Kalscheuer Syndrome
Fine hair, Micrognathia, Malar flattening, Congenital diaphragmatic hernia, Short stature, Growth... OMIM:300978
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Frontotemporal hypertrichosis, Retrognathia, Abnormal lung lobation, Large fleshy e... OMIM:263210
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis OMIM:618449
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Hearing impairment, Carious teeth, Pancytopenia, Imp... ORPHA:811
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:616867
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Rheumatic Fever
Abnormal pleura morphology, Recurrent pharyngitis, Arthritis, Sinusitis, Myocarditis, Endocarditi... ORPHA:3099
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Failure to thrive, Recurrent apht... ORPHA:275
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent respiratory infections, Recurrent viral infections,... OMIM:611521
Alg3-Cdg
Hearing impairment, Lipodystrophy, Recurrent infections, Arthrogryposis multiplex congenita, Abno... ORPHA:79321
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Red... OMIM:620438
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Congenital diaphragmatic hernia, Omphalocele, Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Atelosteogenesis, Type Ii
Micrognathia, Malar flattening, Stillbirth, Pulmonary hypoplasia OMIM:256050
Achondrogenesis Type 2
Short stature, Hearing impairment, Pulmonary hypoplasia ORPHA:93296
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Good Syndrome
Recurrent urinary tract infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, A... ORPHA:169105
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Congenital Myopathy 1B, Autosomal Recessive
Increased connective tissue, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Hemopha... OMIM:613101
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Hearing impairment, Failure to thrive, Splenomegaly... ORPHA:583
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... ORPHA:169090
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Ehlers-Danlos Syndrome, Classic Type, 2
Hernia, Atrophic scars, Cigarette-paper scars, Recurrent sinusitis OMIM:130010
Chronic Granulomatous Disease
Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Otitis media, Splenomegaly, Sinusitis,... ORPHA:379
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Failure to thrive, Intrauterine growth retard... ORPHA:2257
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Male... OMIM:300991
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Microretrognathia, Neonatal death, Stillbirth, Arthrogryposis multiplex congenita, ... OMIM:236500
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Micrognathia, Short stature, Pulmonary hypoplasia ORPHA:1486
Lethal Congenital Contracture Syndrome 1
Neonatal death, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:253310
Immunodeficiency 46
Sepsis, Failure to thrive, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neu... OMIM:616740
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Glomerulonephritis, Recurrent bacterial infections,... OMIM:613496
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Highly arched eyebrow, Hypertrichosis, Large earlobe, Underfolded helix, Synophrys,... OMIM:618316
Thanatophoric Dysplasia
Low-set ears, Disproportionate short-limb short stature, Hearing impairment, Intrauterine growth ... ORPHA:2655
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Short stature, Growth del... ORPHA:250999
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary interstitial m... OMIM:607616
Pallister-Hall-Like Syndrome
Short stature, Micrognathia, Pulmonary hypoplasia OMIM:241800
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Micrognathia, Aplasia/Hypoplasia of the lungs ORPHA:1046
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Small for gestational age ORPHA:70589
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis, Short sperm flagella, Recurrent respiratory infections, Bro... OMIM:620197
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Hearing impairment, Recurrent otitis media, Recurrent sinusitis, Reduced spe... OMIM:619436
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Mesomelic short stature, Short stature, Rec... OMIM:184260
Hypocomplementemic Urticarial Vasculitis
Emphysema, Episcleritis, Skin rash, Pleural effusion, Sensorineural hearing impairment, Splenomeg... ORPHA:36412
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic rhinit... OMIM:608647
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phospholipid accumul... OMIM:620565
Omenn Syndrome
Pneumonia, Alopecia, Recurrent viral infections, Failure to thrive, Splenomegaly, Recurrent bacte... OMIM:603554
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent viral infections, Recurrent candida infections, Recurrent... ORPHA:217390
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Alopecia, Autoimmune hemolytic anemia, Recurrent sinusit... OMIM:616576
Immunodeficiency 12
Recurrent viral infections, Growth delay, Recurrent aphthous stomatitis, Skin rash, Decreased bod... OMIM:615468
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Anemia, Short stature ORPHA:436
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Agnathia-Otocephaly Complex
Low-set ears, Conductive hearing impairment, Micrognathia, Laryngeal hypoplasia, Hypoplasia of th... OMIM:202650
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Panacinar emphysema, Bronchiectasis, Chronic bronchitis OMIM:613490
Reticular Dysgenesis
Sepsis, Abnormality of neutrophils, Hearing impairment, Failure to thrive, Leukopenia, Skin rash,... ORPHA:33355
Zygomycosis
Cellulitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infectio... ORPHA:73263
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Malar prominence... OMIM:251260
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Intrauterine growth retardation, Micrognathia, Pleural effusion,... OMIM:616897
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease 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 bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Cleidocranial Dysplasia
Carious teeth, Hearing impairment, Delayed eruption of teeth, Hypoplasia of the zygomatic bone, A... ORPHA:1452
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Disproportionate short-limb short stature, Micrognathia, Malar flattening, ... OMIM:224410
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Growth delay, Persistent EB... OMIM:616005
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ... OMIM:615482
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int... OMIM:612387
Hemidystonia-Hemiatrophy Syndrome
Abnormal paranasal sinus morphology, Rhizomelic leg shortening, Advanced pneumatization of crania... ORPHA:306741
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Ataxia-Telangiectasia
Female hypogonadism, Failure to thrive, Abnormal hair morphology, Lymphopenia, Decreased proporti... OMIM:208900
Birt-Hogg-Dubé Syndrome
Emphysema, Multiple lipomas, Pneumothorax, Pulmonary sequestration ORPHA:122
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Alopecia, Eczematoid dermatitis, Cu... OMIM:618282
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Splenomegaly, Inguinal hernia, Laryngomala... OMIM:608149
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Bronchitis, Otitis media, Recurrent s... ORPHA:420741
Mucopolysaccharidosis Type 1
Hearing impairment, Splenomegaly, Inguinal hernia, Sensorineural hearing impairment, Generalized ... ORPHA:579
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia,... OMIM:618986
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin... OMIM:614379
Gaucher Disease, Perinatal Lethal
Low-set ears, Retrognathia, Hepatosplenomegaly, Micrognathia, Intrauterine growth retardation, Sp... OMIM:608013
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent infections, Failure to thrive, Lymphopenia, Skin rash, Splenomegaly, Myositis, Lipodyst... OMIM:617591
Fetal Akinesia Deformation Sequence
Arthrogryposis multiplex congenita, Camptodactyly of finger, Intrauterine growth retardation, Mic... ORPHA:994
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Intrauterine growth retardation, Micrognathia, Flexion contracture, Pulmonary hypop... OMIM:312150
Tetrasomy 5P
Low-set ears, Failure to thrive, Postnatal growth retardation, Micrognathia, Pericallosal lipoma,... ORPHA:3309
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic bronc... OMIM:615451
Netherton Syndrome
Recurrent infections, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Emphysema, Abnormal hair ... ORPHA:634
Griscelli Syndrome, Type 2
Silver-gray hair, Hemophagocytosis, Melanin pigment aggregation in hair shafts, Hepatosplenomegal... OMIM:607624
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infection... ORPHA:331206
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmat... OMIM:613177
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Eczematoid dermatitis, Postnatal growth retardation, Superficial derm... OMIM:620632
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Micrognathia, Splenomegaly, Omphalocele, Pulmonary hypoplasia ORPHA:3035
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Recurrent lower resp... OMIM:620282
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Matthew-Wood Syndrome
Low-set ears, Failure to thrive, Intrauterine growth retardation, Congenital diaphragmatic hernia... ORPHA:2470
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Stomatitis OMIM:618307
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenit... OMIM:306400
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Splenome... OMIM:612783
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:2140
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Hypereosinophilia, Pleural effusion, Leukocytosis, Weight loss, H... ORPHA:2902
Marden-Walker Syndrome
Low-set ears, Joint contracture of the hand, Congenital contracture, Postnatal growth retardation... OMIM:248700
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Sensorineural hearing impairment, I... ORPHA:900
Cystic Fibrosis
Recurrent pneumonia, Nasal polyposis, Failure to thrive, Hepatosplenomegaly, Chronic sinusitis, P... OMIM:219700
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis... ORPHA:60032
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:254361
Immunodeficiency 23
Allergic rhinitis, Conductive hearing impairment, Chronic mucocutaneous candidiasis, Eczematoid d... OMIM:615816
Microphthalmia, Syndromic 9
Low-set ears, Severe short stature, Agenesis of pulmonary vessels, Multilobulated spleen, Alveola... OMIM:601186
Renal Hypodysplasia/Aplasia 1
Low-set ears, Primary amenorrhea, Retrognathia, Pulmonary hypoplasia OMIM:191830
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Intrauterine growth retardation, Micrognathia, Flexion contracture, Pulmonary hypop... OMIM:253290
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Pulmonary hypoplasia, Cupped ear, Retrognathia, Intraute... ORPHA:314588
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Disproportionate short-limb short stature, Malar flattening, Pulmonary hypoplasia ORPHA:85166
Febrile Infection-Related Epilepsy Syndrome
Sinusitis ORPHA:163703
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Chronic in... ORPHA:2357
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Sensorineural hearing impairment, Neutropeni... OMIM:612541
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Sepsis, Hepatitis, Failure to thrive, Hemolytic anemia, Enterovir... OMIM:308230
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Micrognathia, Knee flex... OMIM:619708
Maternal Uniparental Disomy Of Chromosome 2
Contractures of the large joints, Postnatal growth retardation, Intrauterine growth retardation, ... ORPHA:96179
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Choanal Atresia
Recurrent respiratory infections, Subglottic stenosis, Chronic sinusitis, Laryngomalacia ORPHA:137914
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Natal tooth, Micrognathia, Omphalocele, Short stature, Widow's peak, Pulmo... OMIM:145420
Bone Marrow Failure Syndrome 4
Low-set ears, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurrent ... OMIM:618116
Achondrogenesis
Severe short stature, Umbilical hernia, Micrognathia, Inguinal hernia, Aplasia/Hypoplasia of the ... ORPHA:932
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, Bronchiectasis OMIM:615481
Mirage Syndrome
Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Intrau... OMIM:617053
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Umbilical hernia, Micrognathia, Aplasia/Hyp... ORPHA:93298
Common Variable Immunodeficiency
Pneumonia, Recurrent respiratory infections, Emphysema, Lymphopenia, Failure to thrive in infancy... ORPHA:1572
Thanatophoric Dysplasia, Type I
Neonatal death, Disproportionate short-limb short stature, Lethal short-limbed short stature, Pul... OMIM:187600
Hermansky-Pudlak Syndrome 2
Low-set ears, Albinism, Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, En... OMIM:608233
Severe Congenital Nemaline Myopathy
Low-set ears, Increased connective tissue, Flexion contracture, Arthrogryposis multiplex congenit... ORPHA:171430
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pharyngitis, Abnormal nasopharyngeal adenoid morphol... ORPHA:3392
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Keutel Syndrome
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Cartilaginous ossification of ... OMIM:245150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Omphalocele, Pulmonary hypoplasia OMIM:617895
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Micrognathia, Malar flattening, Abnormal antihelix morphology, A... ORPHA:2145
Serkal Syndrome
Growth delay, Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:139466
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Recurrent sinusitis, Absent circulating B cells, Meningitis, Recurrent res... OMIM:619707
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent infections, Cellulitis, Eczematoid dermatitis, Atelectasis, Delayed eruption of teeth, ... ORPHA:2314
Infant Acute Respiratory Distress Syndrome
Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Thrombocytopenia, Neutropenia, Recurrent bacterial infections, Macrothrombo... OMIM:603585
Esophageal Atresia
Growth delay, Bronchitis, Hearing impairment, Laryngeal cleft, Failure to thrive in infancy, Esop... ORPHA:1199
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Genitopatellar Syndrome
Low-set ears, Delayed eruption of teeth, Hearing impairment, Fine hair, Micrognathia, Hip contrac... ORPHA:85201
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Low-set ears, Camptodactyly of finger, Intrauterine growth retardation, Abnormal pleura morpholog... ORPHA:2570
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Recurrent otitis media,... OMIM:601495
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Bloom Syndrome
Micrognathia, Severe toxoplasmosis, Sparse eyelashes, Abnormal proportion of CD8-positive T cells... ORPHA:125
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Fragile X Syndrome
Otitis media, Protruding ear, Sinusitis, Mandibular prognathia, Chronic otitis media, Macrotia ORPHA:908
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Failure to thrive, Camptodactyly... ORPHA:2990
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Eosinophilia, Pancreatitis, Sinusitis, Abnormal lung morphology ORPHA:449427
Atelosteogenesis Type I
Low-set ears, Laryngotracheal stenosis, Rhizomelia, Micrognathia, Laryngeal stenosis, Neonatal sh... ORPHA:1190
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Microretrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:616866
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Diaphanospondylodysostosis
Low-set ears, Intrauterine growth retardation, Micrognathia, Inguinal hernia, Disproportionate sh... OMIM:608022
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Sparse eyebrow, Supernumerary nipple, Congenital diaphragmatic hernia, Short statur... OMIM:612530
Czeizel-Losonci Syndrome
Hypoplastic helices, Low-set, posteriorly rotated ears, Micrognathia, Hypoplastic nipples, Promin... ORPHA:2437
Achondrogenesis Type 1A
Severe short stature, Umbilical hernia, Micrognathia, Aplasia/Hypoplasia of the lungs, Femoral he... ORPHA:93299
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Thrombocytopenia, B lymp... ORPHA:169079
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Immunodeficiency 56
Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Failure to thrive, R... OMIM:615207
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Low-set ears, Rhizomelia, Neonatal short-limb short stature, Stillbirth, Pulmonary hypoplasia OMIM:151210
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Severe short stature, Micrognathia, Hirsutism, Flexion contracture, Posteriorly rot... ORPHA:1865
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:615415
Meconium Aspiration Syndrome
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Acro-Renal-Mandibular Syndrome
Hypoplasia of the zygomatic bone, Abnormal lung lobation, Low-set, posteriorly rotated ears, Intr... ORPHA:958
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Lymphopenia, Nail dystrophy, Thrombocytopenia, Anemia, Pulm... OMIM:620365
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent... OMIM:619281
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Pulmonary hypoplasia OMIM:602088
Congenital Myopathy 17
Low-set ears, Dental malocclusion, Failure to thrive in infancy, Narrow jaw, Respiratory tract in... OMIM:618975
Short-Rib Thoracic Dysplasia 12
Low-set ears, Natal tooth, Atelectasis, Intrauterine growth retardation, Splenomegaly, Inguinal h... OMIM:269860
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Aspiration, Laryngeal cleft, Laryngomalacia ORPHA:2004
Meier-Gorlin Syndrome 4
Low-set ears, Hypoplasia of the maxilla, Failure to thrive, Emphysema, Breast hypoplasia, Intraut... OMIM:613804
Complement Factor I Deficiency
Recurrent meningitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis,... OMIM:610984
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Hearing impairment, Micrognathia, Advanced eruption of teeth, Camptoda... OMIM:619148
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Reduced natural killer cell count, Failure to thrive, Pancytopenia, ... OMIM:616050
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... ORPHA:95430
Waardenburg Syndrome Type 3
Hearing impairment, White hair, Atelectasis, Camptodactyly of finger, Thick eyebrow ORPHA:896
Lethal Congenital Contracture Syndrome 10
Low-set ears, Intrauterine growth retardation, Micrognathia, Hypoplasia of the thymus, Omphalocel... OMIM:617022
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Agammaglobulinemia, X-Linked
Hearing impairment, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Ne... OMIM:300755
Boomerang Dysplasia
Severe short-limb dwarfism, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:1263
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the lungs, Severe short stature, Camptod... ORPHA:2635
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lo... OMIM:619632
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilatera... OMIM:611812
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Failure to thrive, Prominent stem of antihel... OMIM:619824
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Laryngeal atresia, Pulmonary hypoplasia OMIM:314390
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulm... ORPHA:2847
Raine Syndrome
Low-set ears, Highly arched eyebrow, Mandibular prognathia, Natal tooth, Arthrogryposis multiplex... OMIM:259775
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... ORPHA:449395
Microcephaly-Micromelia Syndrome
Low-set ears, Intrauterine growth retardation, Micrognathia, Neonatal death, Pulmonary hypoplasia OMIM:251230
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Achondroplasia
Rhizomelia, Neonatal short-limb short stature, Conductive hearing impairment, Recurrent otitis me... OMIM:100800
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Unusual skin infection, Respiratory tract infection, I... ORPHA:68
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Sparse hair, Pulmonary hypoplasia OMIM:614091
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Neutrophil... OMIM:618048
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenit... OMIM:233710
Ciliary Dyskinesia, Primary, 53
Polysplenia, Recurrent pneumonia, Hypoplastic spleen, Chronic sinusitis OMIM:620642
Autosomal Recessive Amelia
Micrognathia, Aplasia/Hypoplasia of the lungs ORPHA:1027
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Tarp Syndrome
Prominent antihelix, Hearing impairment, Extramedullary hematopoiesis, Failure to thrive, Low-set... ORPHA:2886
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... ORPHA:2549
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Nail dystrophy, Erythroid hypoplasia, Anemia, 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
Highly arched eyebrow, Mandibular prognathia, Microretrognathia, Atelectasis, Long eyelashes, Spl... OMIM:620371
Farber Disease
Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Hepatosplenomegaly,... ORPHA:333
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenit... OMIM:233690
Chromomycosis
Atypical scarring of skin, Keratitis, Keratoconjunctivitis sicca, Recurrent bacterial infections,... ORPHA:182
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Dentinogenesis imperfecta, Carious teeth, Atelectasis, Postnatal growth retardation... ORPHA:536467
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Stuve-Wiedemann Syndrome 1
Low-set ears, Flexion contracture of toe, Carious teeth, Elbow flexion contracture, Intrauterine ... OMIM:601559
Neu-Laxova Syndrome
Retrognathia, Abnormal hair morphology, Hypogonadism, Intrauterine growth retardation, Micrognath... ORPHA:2671
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Ogden Syndrome
Low-set ears, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Pulmonary edema... OMIM:300855
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Shoulder flexion contracture, Retrognathia, Elbow flexion contracture, Micrognathia... OMIM:620369
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Abnormal pinna morphology, Pulmonary hypoplasia OMIM:231680
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... OMIM:202700
Otopalatodigital Syndrome Type 2
Low-set ears, Hearing impairment, Failure to thrive, Camptodactyly of finger, Micrognathia, Malar... ORPHA:90652
Poikiloderma With Neutropenia
Recurrent pneumonia, Carious teeth, Growth delay, Retrognathia, Sparse eyebrow, Sparse lateral ey... OMIM:604173
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Reduced sperm motility, Bilateral sensorineural hearing impairment, Abn... OMIM:611102
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Atelectasis, Hypoventilation, Decreased body weight, ... ORPHA:258
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Keratitis, Abnormality of the sphenoid sinus, Orchitis, Prostatitis, Eosino... ORPHA:449563
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Recurrent otitis medi... OMIM:620233
Keutel Syndrome
Alopecia, Hearing impairment, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery steno... ORPHA:85202
Tetraploidy
Intrauterine growth retardation, Hypoplasia of the ear cartilage, Micrognathia, Aplasia/Hypoplasi... ORPHA:3305
Prune Belly Syndrome
Failure to thrive, Recurrent urinary tract infections, Decreased fertility, Aplasia/Hypoplasia of... ORPHA:2970
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Oligomeganephronia
Hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Sm... ORPHA:2260
Mosaic Trisomy 1
Low-set ears, Microretrognathia, Camptodactyly of finger, Elbow flexion contracture, Congenital d... ORPHA:1692
Atelosteogenesis Type Ii
Low-set ears, Rhizomelia, Rhizomelic arm shortening, Elbow flexion contracture, Laryngeal cartila... ORPHA:56304
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent infections, Sparse hair, Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Mal... OMIM:615934
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Cupped ear, Large fleshy ears, Large for gestational age, Micrognathia, Congenital ... OMIM:614080
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Failure to thrive, Micrognathia, Mal... OMIM:214100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent infections, Failure to thrive, Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticuloc... OMIM:618278
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Micrognathia, Congenital diaphragmatic hernia, Inguinal hernia, Multiple ... ORPHA:2063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Aplastic anemia, Premature gra... OMIM:614742
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Recurrent urinary tract infections... ORPHA:221139
Greenberg Dysplasia
Low-set ears, Hypoplasia of the maxilla, Cartilaginous ossification of larynx, Disproportionate s... OMIM:215140
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto... ORPHA:167
Nocardiosis
Cellulitis, Lymphadenitis, Scleritis, Weight loss, Meningitis, Endocarditis, Unusual CNS infectio... ORPHA:31204
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Hernia, Pneumothorax, Partial anomalous pulmonary... ORPHA:185
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Sparse eyebrow, Omphalocele... OMIM:616300
Meckel Syndrome 14
Low-set ears, Microretrognathia, Retrognathia, Micrognathia, Pneumothorax, Pulmonary hypoplasia OMIM:619879
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Omenn Syndrome
Pneumonia, Alopecia, Sepsis, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Spl... ORPHA:39041
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Acrocephalopolydactylous Dysplasia
Low-set ears, Polysplenia, Omphalocele, Extrapulmonary lobar sequestration, Abnormal pinna morpho... OMIM:200995
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Cholesteatoma, Recurrent respiratory infections, P... OMIM:610978
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Facial hirsutism, Micrognathia, Sp... OMIM:170100
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Conductive hearing impairment, Dental malocclusion, Umbilical hernia, Micrognathia,... OMIM:265000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death OMIM:601612
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Frequent Giardia lamblia infestation, Recurrent otitis media, Alopecia total... OMIM:615577
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Recurrent pneumonia, Spontaneous pneumothorax, Recurrent urinary tract infections, ... ORPHA:731
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Neonatal death OMIM:300219
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Transudative pleura... ORPHA:284227
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Neutropenia, Recurrent bacterial... OMIM:610738
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Congenital alveolar dysplasia, Scimitar ano... OMIM:608978
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... OMIM:616873
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Hatipoglu Immunodeficiency Syndrome
Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Premature graying of hair, Recurrent... OMIM:620331
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Generalized hypopigmentation of hair, Eczematoid dermatitis, Failure t... ORPHA:238468
Thanatophoric Dysplasia Type 2
Short stature, Hearing impairment, Aplasia/Hypoplasia of the lungs ORPHA:93274
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Hearing impairment, Umbilical hernia, Micrognathia, Stillbirth, Short stature, Flexion ... OMIM:308050
Mosaic Trisomy 16
Craniofacial asymmetry, Hearing impairment, Intrauterine growth retardation, Abnormal lung morpho... ORPHA:1708
Orofaciodigital Syndrome Type 4
Low-set ears, Severe short stature, Absent crus of helix, Aplasia/Hypoplasia of the mandible, Mic... ORPHA:2753
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Aplasia/Hypoplasia of the lun... ORPHA:3429
Vacterl With Hydrocephalus
Microtia, third degree, Retrognathia, Anotia, Intrauterine growth retardation, Micrognathia, Ingu... ORPHA:3412
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i... ORPHA:2688
Achondrogenesis, Type Ia
Low-set ears, Disproportionate short-trunk short stature, Stillbirth, Pulmonary hypoplasia OMIM:200600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Failure to thrive, Pulmonary hypoplasia OMIM:615503
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Microscopic Polyangiitis
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... ORPHA:727
Meier-Gorlin Syndrome 7
Low-set ears, Pulmonary hypoplasia, Hearing impairment, Breast aplasia, Thin eyebrow, Sensorineur... OMIM:617063
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Weight loss, Glomerulonephritis, Bacterial endocarditis, Re... ORPHA:48435
Alg9-Cdg
Low-set ears, Rhizomelia, Microretrognathia, Abnormal lung lobation, Low-set, posteriorly rotated... ORPHA:79328
Fryns Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Congenital diaphragmatic hernia, Omphalocele, Pu... ORPHA:2059
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Joubert Syndrome 21
Pulmonary hypoplasia, Splenomegaly, Chronic sinusitis, Sensorineural hearing impairment OMIM:615636
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... OMIM:612840
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Sepsis, Small for gestational age, Growth delay, ... OMIM:619573
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, B lymphocytopenia, Coli... OMIM:618969
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Reduced subcutaneous adipose tissue, Neonatal death, Low posterior ha... OMIM:612289
Pentalogy Of Cantrell
Omphalocele, Congenital diaphragmatic hernia, Polysplenia, Pulmonary hypoplasia ORPHA:1335
Meier-Gorlin Syndrome 6
Severe short stature, Microretrognathia, Conductive hearing impairment, Failure to thrive, Umbili... OMIM:616835
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Vici Syndrome
Low-set ears, Albinism, Recurrent viral infections, Chronic mucocutaneous candidiasis, Failure to... OMIM:242840
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Micrognathia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t... ORPHA:1834
Distal Deletion 15Q
Low-set ears, Hearing impairment, Failure to thrive, Postnatal growth retardation, Intrauterine g... ORPHA:1596
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Coarse hair, Eczematoid dermatitis, Retrognathia, Failure to thrive, Postnatal grow... ORPHA:83617
Dpagt1-Cdg
Hearing impairment, Failure to thrive, Hypertrichosis, Lipodystrophy, Camptodactyly, Anemia, Flex... ORPHA:86309
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Neutrophilia, Anemia, Abnormal lung morphology ORPHA:54251
Emanuel Syndrome
Low-set ears, Broad jaw, Hearing impairment, Failure to thrive, Recurrent urinary tract infection... OMIM:609029
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Se... ORPHA:293978
Blomstrand Lethal Chondrodysplasia
Low-set ears, Rhizomelia, Neonatal short-limb short stature, Natal tooth, Micrognathia, Malar fla... ORPHA:50945
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Micrognathia, Laryngeal hypoplasia, Neonatal death, Low posterior hair... OMIM:617925
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Splenomegaly, Pulmonary hypoplasia OMIM:263200
Smith-Lemli-Opitz Syndrome
Rhizomelia, Abnormal lung lobation, Low-set, posteriorly rotated ears, Abnormal dental enamel mor... ORPHA:818
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Sensorineural hearing impairment, Peritonitis, Recurrent infections, Pulmonary hy... OMIM:619351
Lethal Congenital Contracture Syndrome 9
Low-set ears, Joint contracture of the hand, Congenital contracture, Intrauterine growth retardat... OMIM:616503
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Abnormal lung lobation, Congenital diaphragmatic hernia, Aplasia/Hypop... ORPHA:1120
Lacrimal Duct Defect
Conjunctivitis, Sinusitis OMIM:149700
Schinzel-Giedion Syndrome
Low-set ears, Recurrent pneumonia, Abnormal helix morphology, Pulmonary hypoplasia, Retrognathia,... ORPHA:798
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Chronic sinusitis, Male infertility OMIM:619607
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Hearing impairment, Abnormality of the temporomandibular joint, Low-set, posteriorl... ORPHA:536471
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Nephritis, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Alpha-Thalassemia
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemoglobin Barts, He... ORPHA:846
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Microretrognathia, Chylothorax, Joint contracture of the... OMIM:229850
Adult-Onset Still Disease
Neutrophilia, Hepatitis, Pharyngitis, Pharyngalgia, Interstitial pneumonitis, Skin rash, Leukocyt... ORPHA:829
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... OMIM:618849
Lujo Hemorrhagic Fever
Severe viral infection, Atelectasis, Pharyngitis, Lymphopenia, Leukopenia, Leukocytosis, Skin ras... ORPHA:319213
Ehlers-Danlos Syndrome, Classic Type, 1
Cigarette-paper scars, Umbilical hernia, Inguinal hernia, Recurrent sinusitis, Osteoarthritis, Sh... OMIM:130000
Fetal Akinesia Deformation Sequence 1
Low-set ears, Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger... OMIM:208150
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia, Mono... OMIM:300299
Acrorenal-Mandibular Syndrome
Low-set ears, Absent nipple, Elbow flexion contracture, Intrauterine growth retardation, Microgna... OMIM:200980
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Immunodeficiency 22
Recurrent upper respiratory tract infections, Failure to thrive, Decreased proportion of CD4-posi... OMIM:615758
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly OMIM:620296
Icf Syndrome
Low-set ears, Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Micrognathia, Anemia, Re... ORPHA:2268
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Pulmonary artery hypoplasia, Micrognathia, Aortopulmonary window, Recurrent infecti... OMIM:620025
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Microcytic anemia, Neutrophilia, Long eyelashes, Low anterior hairline, C... ORPHA:99843
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal... ORPHA:991
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Splenomegaly, Neonatal death, Asplenia, Pulmonary hypoplasia OMIM:208540
Kenny-Caffey Syndrome, Type 1
Carious teeth, Intrauterine growth retardation, Proportionate short stature, Recurrent bacterial ... OMIM:244460
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Delayed eruption of teeth, Diss... OMIM:300636
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Failure to thrive, Anomalous ori... ORPHA:99050
Renal Agenesis, Bilateral
Low-set ears, Pulmonary hypoplasia ORPHA:1848
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Aplastic anemia, Hearing impairment, Growth delay, Premature graying of hair, Fine hair... OMIM:613990
Tetrasomy 9P
Pulmonary hypoplasia, Abnormal earlobe morphology, Recurrent urinary tract infections, Abnormal d... ORPHA:3310
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt... ORPHA:100026
Absence Of The Pulmonary Artery
Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Growth delay, Bronchiecta... ORPHA:980
Osteogenesis Imperfecta
Carious teeth, Hearing impairment, Micrognathia, Abnormality of dental color, Progressive hearing... ORPHA:666
Q Fever
Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Cho... ORPHA:781
Relapsing Polychondritis
Uveitis, Alopecia, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, ... ORPHA:728
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Reduced progressive sperm motility, Chronic otitis media, Chronic sinusitis OMIM:619608
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hearing impairment, Delayed ... ORPHA:508542
Thoracoabdominal Syndrome
Ventral hernia, Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia OMIM:313850
Restrictive Dermopathy 1
Low-set ears, Sparse eyebrow, Short nail, Natal tooth, Temporomandibular joint ankylosis, Intraut... OMIM:275210
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Recurrent urinary tract infections, Em... ORPHA:90349
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Sensorineural hearing impairment, Absent circulating B ... OMIM:619693
Sarcoidosis
Abnormal pleura morphology, Weight loss, Abnormal nasal mucosa morphology, Erythema nodosum, Tubu... ORPHA:797
Ellis Van Creveld Syndrome
Acute leukemia, Neonatal short-limb short stature, Delayed eruption of teeth, Failure to thrive, ... ORPHA:289
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Aplasia/Hypoplasia of the lun... ORPHA:2167
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:616546
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Hepatosplenomegaly, Micrognathia, Hypoplasia of the maxilla, Hernia... ORPHA:96334
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Hearing impairment, Aplasia/Hypoplasia of the lungs ORPHA:1860
Smith-Lemli-Opitz Syndrome
Low-set ears, Microretrognathia, Growth delay, Eczematoid dermatitis, Hearing impairment, Abnorma... OMIM:270400
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr... OMIM:615978
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Inguinal hernia, Congenital di... OMIM:219100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Failure to thrive, Leu... OMIM:615895
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Micrognathia, Abnormality of the larynx, Aplasia/Hypoplasia of the lungs,... ORPHA:3301
Fraser Syndrome 1
Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ... OMIM:219000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hypoplasia of the epiglottis, Abnormality of the larynx, Pulmonary hypoplasia OMIM:263520
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Iri... OMIM:181000
Tetraamelia Syndrome 2
Low-set ears, Microretrognathia, Absent nipple, Bilateral lung agenesis, Micrognathia, Hypoplasti... OMIM:618021
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly,... ORPHA:470
Meckel Syndrome, Type 1
Low-set ears, Accessory spleen, Natal tooth, Camptodactyly of finger, Intrauterine growth retarda... OMIM:249000
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Alopecia, Carious teeth, Aplastic anemia, Increased mean corpuscular volume, Prematu... OMIM:127550
Tetraamelia Syndrome 1
Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vesse... OMIM:273395
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Mannosidosis, Alpha B, Lysosomal
Growth delay, Hypertrichosis, Thick eyebrow, Splenomegaly, Malar flattening, Sensorineural hearin... OMIM:248500
Adnp Syndrome
Low-set ears, Recurrent upper respiratory tract infections, High anterior hairline, Recurrent uri... ORPHA:404448
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Congenital diaphragmatic hern... ORPHA:887
Rajab Interstitial Lung Disease With Brain Calcifications 1
Growth delay, Failure to thrive, Recurrent urinary tract infections, Emphysema, Slender build, Pa... OMIM:613658
Neu-Laxova Syndrome 1
Low-set ears, Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the ha... OMIM:256520
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Pulmonary hypoplasia OMIM:271520
Meier-Gorlin Syndrome 1
Low-set ears, Hypoplasia of the maxilla, Joint contracture of the hand, Atresia of the external a... OMIM:224690
Chediak-Higashi Syndrome
Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom... OMIM:214500
Loeys-Dietz Syndrome 4
Retrognathia, Emphysema, Malar flattening, Inguinal hernia, Eosinophilic infiltration of the esop... OMIM:614816
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis OMIM:617765
Amoebiasis Due To Entamoeba Histolytica
Pleural effusion, Leukocytosis, Constrictive pericarditis, Weight loss, Lung abscess, Anemia, Acu... ORPHA:67
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Micrognathia, Inguinal hernia... ORPHA:436003
Restrictive Dermopathy
Low-set ears, Sparse eyebrow, Short nail, Natal tooth, Camptodactyly of finger, Temporomandibular... ORPHA:1662
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Cigarette-paper scars, Emph... OMIM:130050
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Anomalous o... ORPHA:3384
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sin... OMIM:607944
Stevens-Johnson Syndrome
Sepsis, Abnormality of neutrophils, Abnormal pleura morphology, Weight loss, Pancreatitis, Dyspar... ORPHA:36426
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hearing impairment, Failure to thrive, Lipodystrophy, Short stature, Recurrent infections, Aspira... OMIM:618922
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal hair morphology, Scleritis, Absent eyebrow, Sparse hair, Macrotia, Alopecia, Eczematoid ... ORPHA:2273
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Decreased proportion of... OMIM:301000
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Fine hair, Pulmonar... OMIM:222700
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Emphysema, Inguinal hernia, Uterine prolapse, Bronchiectasis OMIM:123700
Fraser Syndrome
Pulmonary hypoplasia, Conductive hearing impairment, Atresia of the external auditory canal, Dent... ORPHA:2052
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Micrognathia, Chronic otitis media, Atypical scarring of skin, Low-... ORPHA:534
Focal Dermal Hypoplasia
Low-set ears, Alopecia, Hearing impairment, Camptodactyly of finger, Abnormal dental enamel morph... ORPHA:2092
Developmental And Epileptic Encephalopathy 100
Elbow flexion contracture, Micrognathia, Bilateral camptodactyly, Enamel hypoplasia, Recurrent re... OMIM:619777
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Neonatal Marfan Syndrome
Low-set ears, Crumpled ear, Emphysema, Micrognathia, Flexion contracture, Lipoatrophy, Small for ... ORPHA:284979
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Inflammation of the large intestine, Carious teeth, Periodontitis, Growth... ORPHA:79259
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Pulmonary cyst, Recurrent upper respiratory tract infections, Eczematoid der... OMIM:147060
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Failure to thrive, Thrombocytosis, Anemia, Abnormal pulm... OMIM:615486
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leu... OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Recurrent otitis media, Microcytic anemia, Flexion contracture of fing... OMIM:256040
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Postnatal growth retardation, Micrognathia, Severe intrauterine growth retardation,... OMIM:241410
Halperin-Birk Syndrome
Hearing impairment, Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Microgn... OMIM:618651
Immunodeficiency 82 With Systemic Inflammation
Pustular rash, Recurrent otitis media, Weight loss, Recurrent skin infections, Osteomyelitis, Art... OMIM:619381
Alpha-Mannosidosis, Infantile Form
Pneumonia, Highly arched eyebrow, Recurrent urinary tract infections, Umbilical hernia, Abnormali... ORPHA:309282
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Emphysema, Abnormality of the pulmonary artery, ... ORPHA:363618
Digeorge Syndrome
Low-set ears, Recurrent pneumonia, Atelectasis, Umbilical hernia, Recurrent otitis media, Obesity... OMIM:188400
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Failure to thrive, Sparse eyelash... OMIM:610768
Ulbright-Hodes Syndrome
Low-set ears, Postnatal growth retardation, Micrognathia, Birth length less than 3rd percentile, ... ORPHA:3404
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Chronic otitis media, Obesity, Ing... ORPHA:567
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg... OMIM:116920
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections ORPHA:99104
Sickle Cell Disease
Splenic infarction, Priapism, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, T... OMIM:603903
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel... OMIM:607676
Fabry Disease
Hearing impairment, Emphysema, Sensorineural hearing impairment, Delayed puberty, Arthritis, Anem... ORPHA:324
Pallister-Killian Syndrome
Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Congenital diaphragmatic he... OMIM:601803
Opitz Gbbb Syndrome
Low-set ears, Growth delay, Laryngeal cleft, Umbilical hernia, Posterior pharyngeal cleft, Aspira... OMIM:300000
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, High anterior hairline, Hearing impairment, Failure to thrive, Low-set, po... ORPHA:280
Meacham Syndrome
Abnormal lung lobation, Abnormality of the spleen, Congenital diaphragmatic hernia, Aplasia/Hypop... ORPHA:3097
Autosomal Dominant Cutis Laxa
Low-set ears, Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Postnatal growth re... ORPHA:90348
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Cardiac-Urogenital Syndrome
Accessory spleen, Scimitar anomaly, Congenital diaphragmatic hernia, Partial anomalous pulmonary ... OMIM:618280
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Carious teeth, Natal tooth, Postnatal growth retardation, Micrognathia, Laryngeal c... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Carious teeth, Natal tooth, Postnatal growth retardation, Micrognathia, Laryngeal c... ORPHA:353277
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Sensorineural h... OMIM:300972
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Genitopatellar Syndrome
Pulmonary hypoplasia, Delayed eruption of teeth, Hearing impairment, Micrognathia, Hip contractur... OMIM:606170
Holoprosencephaly
Highly arched eyebrow, Hypoplasia of the zygomatic bone, Failure to thrive in infancy, Abnormalit... ORPHA:2162
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Cleft Larynx, Posterior
Laryngeal stridor, Aspiration OMIM:215800
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Pulmonary artery aneurysm, Pulmonary artery dilatation, Retrognathia, Emphysema, Mi... OMIM:614437
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, E... ORPHA:96182
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Hearing impairment, Atelectasis, Respiratory tract infection, Flexion contracture ORPHA:365
Penile Agenesis
Bilateral lung agenesis, Posteriorly rotated ears, Pulmonary hypoplasia ORPHA:49
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Recurrent sinusitis, Colitis, Recurrent infections OMIM:613960
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Highly arched eyebrow, Hypoplasia of the maxilla, Hypertrichosis, Supernumerary nip... OMIM:213980
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Infantile Systemic Hyalinosis
Severe short stature, Failure to thrive, Camptodactyly of finger, Recurrent bacterial infections,... ORPHA:2176
Chand Syndrome
Agenesis of maxillary incisor, Atelectasis, Curly hair ORPHA:1401
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
Vocal Cord And Pharyngeal Distal Myopathy
Bowing of the vocal cords, Aspiration, Abnormal morphology of musculature of pharynx ORPHA:600
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Decreased body weight, As... OMIM:616462
Marfan Syndrome
Pulmonary artery dilatation, Retrognathia, Emphysema, Premature osteoarthritis, Micrognathia, Mal... OMIM:154700
Pontine Tegmental Cap Dysplasia
Aspiration, Failure to thrive, Sensorineural hearing impairment OMIM:614688
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia, Male infertility OMIM:618948
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Bifid epiglottis, Micrognathia, Omphalocele, Pulmonary... ORPHA:93271
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Delayed puberty, Neutropen... OMIM:232220
Marfan Syndrome
Spontaneous pneumothorax, Pulmonary artery dilatation, Retrognathia, Emphysema, Slender build, Mi... ORPHA:558
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Hyperekplexia 1
Aspiration, Inguinal hernia, Umbilical hernia OMIM:149400
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Fasciitis, Osteomyelitis, Corneal scarring, Anemia, Tooth abscess, Rec... ORPHA:642
Neuromuscular Oculoauditory Syndrome
Aspiration, Knee flexion contracture, Sensorineural hearing impairment, Simple ear, Wrist flexion... OMIM:618733
Amyotrophic Lateral Sclerosis 21
Bowing of the vocal cords, Aspiration OMIM:606070
Spinocerebellar Ataxia Type 8
Impotence, Aspiration ORPHA:98760
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Abnormality of the sphenoid sinus, Micrognathia, Protruding ear,... ORPHA:363700
Fanconi Anemia, Complementation Group A
Hearing impairment, Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Neut... OMIM:227650
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Growth delay, Intrauterine growth retardation, Corneal scarring, Flexion contractur... OMIM:614653
Noonan Syndrome 1
Low-set ears, Chylothorax, Hearing impairment, Juvenile myelomonocytic leukemia, Dental malocclus... OMIM:163950
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hypoplasia of the maxilla, Sparse eyebrow, Hearing impairment, Emphysema, Failure t... ORPHA:500150
Zttk Syndrome
Low-set ears, Hypoplasia of the maxilla, Sparse eyebrow, Failure to thrive, Intrauterine growth r... OMIM:617140
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia OMIM:207731
Tay-Sachs Disease
Aspiration OMIM:272800
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Flexion contracture, Aspiration ORPHA:2148
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Arthrogryposis multiplex congenita, Recurrent otitis media, Hepatosplenomegaly, Mic... OMIM:619503
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Microphthalmia, Syndromic 1
Low-set ears, Joint contracture of the hand, Hearing impairment, Recurrent otitis media, Agenesis... OMIM:309800
Craniofacial Microsomia 1
Pulmonary hypoplasia, Duplicated tragus, Conductive hearing impairment, Atresia of the external a... OMIM:164210
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Conical incisor, Severe cytomegalovirus infection, Recurrent bacterial inf... OMIM:300291
Proteus Syndrome
Low-set ears, Neoplasm of the lung, Pulmonary cyst, Carious teeth, Bronchogenic cyst, Thymus hype... ORPHA:744
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Malar flatte... OMIM:170390
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Infracardiac total ... ORPHA:99125
Supernumerary Nostril
Abnormality of ethmoid sinus ORPHA:141096
Rett Syndrome, Congenital Variant
Protruding ear, Aspiration OMIM:613454
Viss Syndrome
Low-set ears, Micrognathia, Contracture of the proximal interphalangeal joint of the 2nd toe, Mac... OMIM:619472
Alternating Hemiplegia Of Childhood
Thin eyebrow, Aspiration, Failure to thrive ORPHA:2131
Oculopharyngodistal Myopathy 1
Bowing of the vocal cords, Weight loss, Aspiration, Sensorineural hearing impairment OMIM:164310
Bilateral Perisylvian Polymicrogyria
Hearing impairment, Intrauterine growth retardation, Micrognathia, Distal arthrogryposis, Flexion... ORPHA:98889
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Hearing impairment, Abnormal mandible morphology, Abnormalit... ORPHA:249
Mpdu1-Cdg
Eczematoid dermatitis, Prominent frontal sinuses ORPHA:79323
17Q11 Microdeletion Syndrome
Low-set ears, Leukemia, Abnormality of the sphenoid sinus, Intrauterine growth retardation, Delay... ORPHA:97685
Sotos Syndrome
Small cell lung carcinoma, Ankle flexion contracture, Conductive hearing impairment, Hearing impa... ORPHA:821
Metaphyseal Dysplasia, Braun-Tinschert Type
Advanced pneumatization of cranial sinuses ORPHA:85188
Alström Syndrome
Frontal balding, Hepatosplenomegaly, Glomerulonephritis, Thickened ears, Oligozoospermia, Abnorma... ORPHA:64
Proboscis Lateralis
Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Abnormal eyebrow morphol... ORPHA:141099
Patent Urachus
Recurrent gram-negative bacterial infections, Cystocele, Recurrent urinary tract infections ORPHA:431341
Pituitary Deficiency Due To Rathke Cleft Cysts
Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism ORPHA:91350
Nelson Syndrome
Abnormality of the sphenoid sinus ORPHA:199244
Joubert Syndrome
Low-set ears, Highly arched eyebrow ORPHA:475

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cby1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cby1.

No publications found that use IMPC mice or data for Cby1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cby1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cby1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cby1tm214187(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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