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Gene: Fyn MGI:95602

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Gene Summary

Name:
Fyn proto-oncogene
Synonyms:
Src Kinase p59

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Fyntm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images
Fyntm1a(EUCOMM)Wtsi
HET, Male, WTSI
Fyntm1a(EUCOMM)Wtsi
HET, Male, WTSI
Fyntm1a(EUCOMM)Wtsi
HET, Male, WTSI
Fyntm1a(EUCOMM)Wtsi
HET, Male, WTSI
Fyntm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 111 images

Fyntm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Fyntm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Fyntm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Fyntm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Fyn mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 40
Lymphopenia OMIM:616433
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Immunodeficiency 8
Lymphopenia OMIM:615401
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... OMIM:610163
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... OMIM:614963
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Huntington Disease
Gait imbalance, Inability to walk, Mental deterioration, Difficulty walking, Abnormal libido, Cho... ORPHA:399
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Dystonia 30
Torticollis, Oromandibular dystonia, Leg dystonia, Loss of ambulation, Impulsivity, Hypothalamic ... OMIM:619291
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... OMIM:603909
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Cerebral cortical atrophy, Cerebral atrophy, Reduced sperm motility, Corpus callosum... ORPHA:320391
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level OMIM:613101
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Immunodeficiency 81
Reduced natural killer cell activity, Impaired collagen-induced platelet aggregation, Reduced ant... OMIM:619374
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility OMIM:615703
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... OMIM:308240
Myeloma, Multiple
Paraproteinemia OMIM:254500
Kimura Disease
Increased circulating IgE level ORPHA:482
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Self-injurious behavior, Supernumerary nipple, Micropenis, Focal impaired awareness ... OMIM:618929
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... OMIM:616005
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Decreased circulating IgG level, Inflammation o... OMIM:615767
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... ORPHA:399805
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Increa... OMIM:209950
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:613500
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Microcephaly, Male hypogonadism OMIM:241000
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Progressive neurologic deterioration, Hemop... OMIM:607624
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Oligospermia, Primary amenor... ORPHA:52901
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Cone/cone-rod dystrophy, Optic ... OMIM:602271
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Hyposmia, Hypergonadotropic hypogonadism, Intention tremor, Head tremor, Abnormality... OMIM:613724
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary ame... OMIM:610628
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... OMIM:308700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Chudley-Mccullough Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus cal... OMIM:604213
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anti-thyroid peroxida... ORPHA:277
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... OMIM:615559
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Delayed myelination OMIM:618339
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Hyposmia, Decreased circulating follicle ... OMIM:614897
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia, Choanal atresia... OMIM:147950
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Bardet-Biedl Syndrome 19
Hyposmia, External genital hypoplasia, Hypogonadism OMIM:615996
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, C... OMIM:612702
Kallmann Syndrome
Ataxia, Dyspareunia, Hypoplasia of penis, Micropenis, Hyposmia, Hypogonadotropic hypogonadism, Pr... ORPHA:478
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... OMIM:614841
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Deleted in azoospermia
Azoospermia OMIM:400003
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotrop... OMIM:308750
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Young-Onset Parkinson Disease
Gait imbalance, Apathy, Female sexual dysfunction, Impulsivity, Cognitive impairment, Depression,... ORPHA:2828
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Abnormal hypothalamus morphology, Central ad... ORPHA:54595
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism, Anosmia OMIM:616030
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Periventricular nodular heterotopia, ... OMIM:619737
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Seizure, Cryptorchidism,... OMIM:244200
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infections, Decr... OMIM:619752
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... ORPHA:70593
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Mental deterioration, Memory impairment, Gait disturbance, Lateral ven... ORPHA:2822
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Hypogonadotropic hypogonadism, Agenesis of ... ORPHA:238722
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Boutonneuse Fever
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level ORPHA:83313
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia, Decreas... OMIM:618495
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Hyposmia, Myoclonus, Gait disturbance, Tremor, Aggressive behavior... OMIM:606693
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating IgE level OMIM:618523
47,Xyy Syndrome
Increased serum testosterone level, Impulsivity, Cryptorchidism, Micropenis, Hypospadias, Oligosp... ORPHA:8
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Anosmia OMIM:614838
Meningioma
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... ORPHA:2495
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis... ORPHA:217390
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Abnormal myelination, Cerebral atrophy, Agenesis of corp... ORPHA:85179
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Maternal diabete... ORPHA:3157
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genital... ORPHA:261519
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma... OMIM:243700
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cutaneo... OMIM:147060
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Young Syndrome
Azoospermia OMIM:279000
Foxg1 Syndrome
Status epilepticus, Inability to walk, Poor eye contact, Delayed myelination, Cognitive impairmen... ORPHA:561854
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... ORPHA:2442
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Choanal atresia, Aplasia/Hypopl... ORPHA:1135
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Anosmia, Decreased testicular size OMIM:614858
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Ambiguous genitalia, Dysplastic corpus callosum OMIM:601016
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti... OMIM:618394
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Motor axonal neuropathy, Microcephaly, Dysplastic corpus callosum OMIM:618276
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia OMIM:612370
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid factor positive, Progr... ORPHA:91139
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Rasmussen Subacute Encephalitis
Inability to walk, Focal impaired awareness seizure, Anti-dsDNA antibody positivity, Emotional la... ORPHA:1929
Leber Congenital Amaurosis 10
Seizure, Hyposmia OMIM:611755
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Gorlin Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Cryptorchidism, Wide nasal bridge ORPHA:377
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Rheumatoid factor positive, Increased circulating IgG level, ... OMIM:615816
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Sneddon Syndrome
Mental deterioration, Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody pos... OMIM:182410
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc... ORPHA:449400
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Agenesis of corpus callosum, Abnormal hypothalamus morphology... ORPHA:314621
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Dermoid Cysts, Familial Frontonasal
Nocturnal seizures, Nasal congestion, Seizure, Dysphagia, Deviated nasal septum, Anosmia, Wide na... OMIM:600679
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Hydrolethalus
Abnormality of the sense of smell, Abnormal fallopian tube morphology, Cryptorchidism, Agenesis o... ORPHA:2189
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Dopa-Responsive Dystonia
Arm dystonia, Agoraphobia, Leg dystonia, Inability to walk, Delayed myelination, Abnormal social ... ORPHA:255
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia OMIM:302950
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Retinal degeneration, Microcephaly, Optic at... OMIM:252650
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:619802
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Abnormal peripheral myelination, Hypoplasia of the uterus, Infertilit... ORPHA:168563
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Myoclonus, Memory impairment, T2 hypointense thalamus, Gait disturbance, Disinhibition, CNS demye... OMIM:618193
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyposmia, Increased serum leptin, Polyphagia, Anosmia OMIM:617885
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia OMIM:229070
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Adrenal Hypoplasia, Congenital
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism OMIM:300200
Bardet-Biedl Syndrome 17
Polydipsia, Hyposmia, Micropenis, Cognitive impairment, Hypogonadism, Anosmia OMIM:615994
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Absence of pubertal development, Anosmia, Hypogonadism OMIM:615267
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Hypogonadotropic hypogonadism, Depressed nasal bridge, Anosmia OMIM:113480
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Cach Syndrome
Apathy, Dysmyelinating leukodystrophy, Limb ataxia, Cognitive impairment, Dysmetria, Primary amen... ORPHA:135
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Hypersplenism, Bone marr... ORPHA:3261
New-Onset Refractory Status Epilepticus
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Cognitive impair... ORPHA:363558
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Delayed puberty, Hypogonadism OMIM:615270
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... OMIM:617388
Congenital Hypothyroidism
Abnormality of the thyroid gland, Depressed nasal ridge, Depression, Thyroid dysgenesis, Anxiety,... ORPHA:442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Micropenis, Retinal dysplasia, Cortical dysplasia, Anencephaly, Optic ne... OMIM:615287
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Abnormality of the autonomic nervous ... ORPHA:330015
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia OMIM:614839
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Increased c... ORPHA:562639
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... ORPHA:443811
Amoebiasis Due To Free-Living Amoebae
Ataxia, Abnormal hypothalamus morphology, Hyposmia, Abnormality of the adrenal glands, Seizure, I... ORPHA:68
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid a... ORPHA:48377
Johnson Neuroectodermal Syndrome
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Choanal stenosis, Anosmia OMIM:147770
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... ORPHA:275
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morpholo... ORPHA:352682
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Bone marrow hypocellulari... OMIM:617303
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Increased circulating IgA level, Lymphopenia, Leukopenia, R... OMIM:615934
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic seizure, Cogni... ORPHA:1947
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho... OMIM:615577
Tick-Borne Encephalitis
Leukocytosis, Cognitive impairment, Leukopenia, Increased circulating IgG level, Abnormality of s... ORPHA:297
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the nares, Shor... ORPHA:1295
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Hereditary Late-Onset Parkinson Disease
Apathy, Akinesia, Impulsivity, Resting tremor, Hyposmia, Mental deterioration, Depression, Low fr... ORPHA:411602
Lassa Fever
Increased circulating IgM level ORPHA:99824
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Ataxia, Demyelinating periph... OMIM:609136
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Netherton Syndrome
Erythroderma, Allergic rhinitis, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... ORPHA:251066
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... OMIM:600802
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Autoimmune Hepatitis
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Smooth m... ORPHA:2137
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Myotonic Dystrophy 2
Oligospermia, Periventricular white matter hyperintensities, Hypogonadism OMIM:602668
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Loss of ambulation, Progressive language deterioration, Co... ORPHA:79264
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma, Hypothyroidism, Seizure, Cryptorchidism, CNS hypomyelination OMIM:619908
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Mental deterioration, Thalamic calcification, Limb dystonia, Seizure, Generalized dy... OMIM:618824
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Congenital stationary night blindness, Abnormal spermatogenesis ORPHA:90646
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination OMIM:618324
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, C3 nephritic factor positivity, Aut... ORPHA:329918
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Hypoplasia of penis, Retinal coloboma, Polymicrogyria, Pachygyria, Hy... ORPHA:2328
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism ORPHA:91351
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Paucity of anterior horn motor neurons, Cogni... ORPHA:79139
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... ORPHA:507
Johnson Neuroectodermal Syndrome
Bulbous nose, Choanal atresia, Anosmia, Hypogonadism ORPHA:2316
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... OMIM:614833
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Premature Ovarian Failure 10
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... OMIM:612885
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligospermia, Optic atrophy, Hypogonadism ORPHA:2067
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion, Abnormality of female external genitalia ORPHA:83453
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Anxiety, Delayed puberty, Cryptorchidism,... OMIM:619718
Primary Biliary Cholangitis
Antinuclear antibody positivity, Autoimmunity, Increased circulating IgA level, Increased circula... ORPHA:186
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, C... ORPHA:101096
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Depressed nasal ridge, Cognitive impa... ORPHA:2162
Netherton Syndrome
Skin rash, Eczema, Decreased circulating antibody level, Erythroderma, Increased circulating IgE ... ORPHA:634
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Abnormal nasal morphology, Anxiety, Abnormality of thalamus morphology, F... ORPHA:404440
Neuroferritinopathy
Leg dystonia, Blepharospasm, Resting tremor, Cognitive impairment, Focal dystonia, T2 hypointense... ORPHA:157846
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Abnormality of the sense of smell, Wide nose, Cryptorchidism, Underdeveloped... ORPHA:284160
Panhypophysitis
Polydipsia, Impotence, Decreased circulating cortisol level, Increased circulating prolactin conc... ORPHA:95513
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... OMIM:613011
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Central Precocious Puberty
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Hypo... ORPHA:759
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Autoimmune antibody positivity, Falls, Hypoth... ORPHA:3198
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Abse... OMIM:102700
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Microcephaly, Delayed myelination ORPHA:85290
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Tay-Sachs Disease
Typical absence seizure, Precocious puberty, Inability to walk, Laryngeal dystonia, Exaggerated s... ORPHA:845
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Decreased response to growth hormone stimulation test, Pyriform ... OMIM:147250
Apnea, Obstructive Sleep
Focal impaired awareness seizure, Anosmia OMIM:107650
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Bone Marrow Failure Syndrome 5
Testicular atrophy, Decreased circulating antibody level, Seizure, Hypogonadism OMIM:618165
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circulating IgE level OMIM:304790
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Inability to walk, Spastic ataxia, Partial agenesis of the corpus callosum, Lateral ... ORPHA:300570
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Rift Valley Fever
Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level ORPHA:319251
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Peripheral axonal neuropathy, Optic disc hypoplasia, Co... OMIM:619955
Peroxisome Biogenesis Disorder 9B
Ataxia, Anosmia OMIM:614879
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Kallmann Syndrome-Heart Disease Syndrome
Micropenis, Hypogonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Partial an... ORPHA:2326
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Increased circulating IgM level,... ORPHA:505248
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Antinuclear antibody positivity, Increased circulati... ORPHA:79078
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Dysplastic corpus callosum, Peripheral axonal neuropathy, Micropenis OMIM:618810
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Micropenis, Hypospadias, Endometriosis, Premature ovarian insufficiency ORPHA:363444
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Primary Ciliary Dyskinesia
Rod-cone dystrophy, Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Agammaglobulinemia, X-Linked
Bronchiectasis, Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Py... OMIM:300755
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, Antineutrophil antibody positivi... OMIM:301078
Generalized Glucocorticoid Resistance Syndrome
Infertility, Precocious puberty, Oligospermia, Oligomenorrhea, Ambiguous genitalia, Female pseudo... ORPHA:786
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:614924