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Gene: Fyn MGI:95602

Gene Summary

Name:

Fyn proto-oncogene

Synonyms:

Src Kinase p59

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Fyn^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	0.00

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images

Fyn^{tm1a(EUCOMM)Wtsi}
HET, Male, WTSI

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Fyn^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

Fyn^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HET, Female, WTSI

Fyn^{tm1a(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.

Human diseases associated with Fyn (0 diseases)
Human diseases predicted to be associated with Fyn (774 diseases)

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	Matching phenotypes	Source
Guillain-Barre Syndrome, Familial	Acute demyelinating polyneuropathy	OMIM:139393
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
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	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Pelizaeus-Merzbacher disease	Abnormal CNS myelination, Leukodystrophy	DECIPHER:38
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Intellectual Developmental Disorder, Autosomal Recessive 4	Delayed myelination	OMIM:611107
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:601859
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity	OMIM:608898
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
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
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Huntington Disease	Oral-pharyngeal dysphagia, Compulsive behaviors, Depression, Abnormality of the sense of smell, S...	ORPHA:399
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Dystonia 30	Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Loss of ambulation, ...	OMIM:619291
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp...	ORPHA:399808
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency 20	Reduced natural killer cell activity	OMIM:615707
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease...	OMIM:613493
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Focal T2 hyperintense thalamic lesion, ...	OMIM:613724
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE le...	ORPHA:98813
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,...	OMIM:613502
Autosomal Recessive Spastic Paraplegia Type 46	Peripheral axonal neuropathy, Corpus callosum atrophy, Cerebral atrophy, Abnormal cerebral white ...	ORPHA:320391
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant...	OMIM:619374
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function	OMIM:267500
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm...	OMIM:146110
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Kimura Disease	Increased circulating IgE level	ORPHA:482
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Depressed nasal bridge, Supernumerary nipple, Impulsivity, Infantile spasms, Cryptorchidism, Inte...	OMIM:618929
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ...	OMIM:615767
Immunodeficiency 27A	Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating...	OMIM:209950
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM le...	OMIM:616005
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Stxbp1-Related Encephalopathy	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Morbid Obesity And Spermatogenic Failure	Azoospermia, Infertility, Oligozoospermia	OMIM:615703
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,...	OMIM:613500
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Activated Pi3K-Delta Syndrome	Autoimmunity, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level...	ORPHA:397596
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre...	OMIM:612692
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Progressive neurologic deterioration, Hepatos...	OMIM:607624
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Schnitzler Syndrome	Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia	ORPHA:37748
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Ab...	OMIM:610628
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Hyp...	OMIM:604213
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Anosmia, Primary amenorrhea, Decrease...	OMIM:614897
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Antinuc...	OMIM:618048
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Seizure, Hypothalami...	ORPHA:649929
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Autoimmune Lymphoproliferative Syndrome, Type Iii	Reduced natural killer cell activity, Absent isohemagglutinin level, Decreased circulating comple...	OMIM:615559
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoe...	OMIM:620317
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m...	OMIM:602271
Young-Onset Parkinson Disease	Restless legs, Short attention span, Impulsivity, Tremor, Depression, Frontal lobe dementia, Male...	ORPHA:2828
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ...	ORPHA:277
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr...	OMIM:308750
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland...	OMIM:612702
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Dela...	OMIM:147950
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi...	OMIM:614841
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Central hypothyroidism, Abn...	OMIM:616113
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Crypto...	ORPHA:3157
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d...	OMIM:614837
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Abnormal myelination	ORPHA:401830
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm...	ORPHA:54595
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Abnormal myelination	ORPHA:401820
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia, Hypogonadotropic hypogonadism	OMIM:615266
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Retrobulbar optic ...	OMIM:619737
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Ataxia, Inability to walk, Mental deterioration, Memory impairment, Seizure...	ORPHA:2822
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti...	OMIM:240500
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Seizure, Hyposmia, Mi...	OMIM:244200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ...	OMIM:619752
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci...	OMIM:620282
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Increased circulating IgG level, Decreas...	OMIM:618495
Boutonneuse Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia	ORPHA:83313
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu...	OMIM:614880
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ...	OMIM:614858
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media	OMIM:618523
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Dysplastic corpus callosum, Hypospadias	OMIM:620135
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu...	OMIM:618282
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size	OMIM:614838
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Autoimmun...	ORPHA:331206
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Akinesia, Aggressive behavior, Tremor, Anosmia, Seizure, Dementia,...	OMIM:606693
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia	OMIM:616069
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Hyperactivity, Bilateral tonic-clonic seizure with generalized on...	ORPHA:1929
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn...	OMIM:243700
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Abnormal ...	ORPHA:85179
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi...	OMIM:147060
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase...	ORPHA:540
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell activity	OMIM:616050
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Abnormal corticospinal tract morphology	ORPHA:238722
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, CNS hypomyelination, Seizure, Attention deficit hyperactivity disorder, Hypothala...	OMIM:619908
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Motor axonal neuropathy, Microcephaly	OMIM:618276
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Chilblain Lupus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity...	ORPHA:90280
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating...	OMIM:618394
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Immunodeficiency 37	Colitis, Infectious encephalitis, Decreased circulating antibody level	OMIM:616098
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism	OMIM:612370
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre...	OMIM:619510
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ...	ORPHA:276
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit...	ORPHA:1135
Leber Congenital Amaurosis 10	Hyposmia, Seizure	OMIM:611755
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Gorlin Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Immunodeficiency 23	Hemolytic anemia, Rheumatoid factor positive, Abscess, Eosinophilia, Increased circulating IgE le...	OMIM:615816
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG,...	ORPHA:91139
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Hydrolethalus	Abnormality of the sense of smell, Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopia...	ORPHA:2189
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Igg4-Related Aortitis	Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti...	ORPHA:449400
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Body Mass Index Quantitative Trait Locus 19	Anosmia, Hyperinsulinemia, Increased serum leptin, Hyposmia, Polyphagia	OMIM:617885
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu...	ORPHA:314621
Sneddon Syndrome	Mental deterioration, Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymp...	OMIM:182410
Bardet-Biedl Syndrome 19	Hyposmia, Hypogonadism, External genital hypoplasia	OMIM:615996
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, Seizure, Dementia, Disinhibition, Myoclonus, Gait disturbance, CNS demye...	OMIM:618193
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs o...	ORPHA:171680
Cach Syndrome	Premature ovarian insufficiency, Progressive neurologic deterioration, T2 hypointense thalamus, D...	ORPHA:135
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia, Delayed puberty	OMIM:615271
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Hand tremor, Depression, Athetosis, Dementia, Thalamic calcification, Cognitive ...	OMIM:615483
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Abnormal eating ...	ORPHA:101039
Immunodeficiency 97 With Autoinflammation	Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E...	OMIM:619802
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Lead Poisoning	Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Increased circulating IgE ...	ORPHA:330015
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG...	OMIM:620210
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo...	OMIM:616100
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Delayed myelination, Microcephaly	ORPHA:85290
Amoebiasis Due To Free-Living Amoebae	Restlessness, Ataxia, Confusion, Abnormal hypothalamus morphology, Irritability, Seizure, Abnorma...	ORPHA:68
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Mucolipidosis Iv	Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy, Retinal degener...	OMIM:252650
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circulating antibody level, Ot...	ORPHA:169160
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp...	OMIM:617388
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility	OMIM:615434
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Confusion, Autoimmunity, Bilateral tonic-clonic seizur...	ORPHA:363558
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun...	ORPHA:3261
Bardet-Biedl Syndrome 17	Polydipsia, Anosmia, Hypogonadism, Cognitive impairment, Hyposmia, Micropenis	OMIM:615994
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Ciliary Dyskinesia, Primary, 12	Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia...	OMIM:612650
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Dimin...	ORPHA:297
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Hypoplas...	OMIM:614842
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum	OMIM:302950
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec...	OMIM:614878
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy...	ORPHA:254881
Pgm3-Cdg	Hemolytic anemia, Rheumatoid factor positive, Autoimmunity, Abnormal proportion of CD8-positive T...	ORPHA:443811
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Subcorneal Pustular Dermatosis	Hyperthyroidism, Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level...	ORPHA:48377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia, Hypogonadism, Absence of pubertal development	OMIM:615267
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 ratio, Autoimmune throm...	ORPHA:572
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:300200
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh...	OMIM:256500
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Dysplastic corpus callosum, Micropenis, Peripheral axonal neuropathy	OMIM:618810
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Cerebral dysmyelination, Cryptorchidism, Dysmyelinating leukodystrophy, Anos...	OMIM:609136
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis...	ORPHA:436159
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia, Hypogonadism, Delayed puberty	OMIM:615270
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased circu...	ORPHA:275
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor...	OMIM:614839
Hereditary Late-Onset Parkinson Disease	Resting tremor, Impulsivity, Akinesia, Dysphagia, Depression, Dementia, Agitation, Low frustratio...	ORPHA:411602
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Anti-thyroid peroxidase antibody positivit...	OMIM:615577
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Sting-Associated Vasculopathy, Infantile-Onset	Antiphospholipid antibody positivity, Rheumatoid factor positive, Increased circulating IgA level...	OMIM:615934
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Mucopolysaccharidosis-Plus Syndrome	Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hypocell...	OMIM:617303
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyria, Abno...	ORPHA:352682
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo...	ORPHA:69126
Coasy Protein-Associated Neurodegeneration	Cognitive impairment, Difficulty walking, Oromandibular dystonia, Compulsive behaviors, Abnormal ...	ORPHA:397725
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Abnormal B cell proliferation, Eso...	OMIM:619652
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Ataxia, Dysmetria, Thalamic calcification, Dysphagia, Mental deterioration, Memory impa...	OMIM:618317
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Ataxia, T2 hypointense thalamus, Inability to walk, Unsteady gait, Gait ataxia, Seizure, Dementia...	ORPHA:1947
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Splenomegaly,...	ORPHA:2137
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Seizur...	ORPHA:91351
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Seizure, Delayed CNS myelination, Decreased thalamic volume, Dysphagia	OMIM:613668
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Immunodeficiency 22	Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating I...	OMIM:615758
Tularemia	Brain abscess, Confusion, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Depressed nasal bridge, Abnormal nasal morphology, Cryptorchidism, Wide nasal b...	ORPHA:404440
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm	OMIM:613808
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Limb ataxia, Seizure, Thalamic calcification, Limb dystonia, Mental deterio...	OMIM:618824
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchidism, Anosm...	ORPHA:251066
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp...	ORPHA:1295
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci...	OMIM:226990
Japanese Encephalitis	Neutrophilia, Paucity of anterior horn motor neurons, Increased circulating IgM level, Increased ...	ORPHA:79139
Juvenile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Loss of ambulation, Depression, Seizure, Focal T2 hyperintense th...	ORPHA:79264
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula...	ORPHA:507
C3 Glomerulopathy	Autoimmunity, Paraproteinemia, Decreased circulating complement C3 concentration, C3 nephritic fa...	ORPHA:329918
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Spinocerebellar Ataxia 32	Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy	OMIM:613909
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen...	ORPHA:284160
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Torticollis, Abnormal repetitive mannerisms, Partial agenes...	ORPHA:300570
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at...	ORPHA:276183
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Kapur-Toriello Syndrome	Hypoplasia of penis, Dysplastic corpus callosum, Hypoplastic labia majora, Retinal coloboma, Pach...	ORPHA:2328
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile sperm	OMIM:242670
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:615444
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation in ...	OMIM:606367
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Holoprosencephaly	Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Choanal atresia, Anteverted nares, Ap...	ORPHA:2162
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Tremor, Precocious puberty, Typical absence s...	ORPHA:845
Netherton Syndrome	Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro...	ORPHA:634
Neuroferritinopathy	Resting tremor, Writer's cramp, T2 hypointense thalamus, Leg dystonia, Abnormal thalamic MRI sign...	ORPHA:157846
Myotonic Dystrophy 2	Hypogonadism, Periventricular white matter hyperintensities, Oligozoospermia	OMIM:602668
Aregenerative Anemia	Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, De...	ORPHA:101096
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Microcephaly, Focal polymicrogyria, Cryptorchidism, Partial agenesis of the corpus c...	OMIM:619103
Primary Biliary Cholangitis	Antinuclear antibody positivity, Increased circulating IgM level, Autoimmunity, Increased circula...	ORPHA:186
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Short nose, Myoclonus, Abno...	ORPHA:289266
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Johnson Neuroectodermal Syndrome	Bulbous nose, Hypogonadism, Choanal atresia, Anosmia	ORPHA:2316
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Vulvovaginal Gingival Syndrome	Abnormality of female external genitalia, Abnormality of tumor necrosis factor secretion	ORPHA:83453
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co...	ORPHA:309246
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Peroxisome Biogenesis Disorder 9B	Anosmia, Ataxia, Total anosmia	OMIM:614879
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia, Delayed puberty	OMIM:274190
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed CNS myelination, Supernumerary nipple, Cryptorchidism, Difficulty walking, Hyposmia, Micr...	OMIM:618653
Kallmann Syndrome-Heart Disease Syndrome	Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Delayed ...	ORPHA:2326
Alexander Disease Type I	Ataxia, Abnormal thalamic MRI signal intensity, Seizure, Dysphagia, Palatal tremor	ORPHA:363717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth...	OMIM:147250
Rift Valley Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia	ORPHA:319251
Apnea, Obstructive Sleep	Anosmia, Focal impaired awareness seizure	OMIM:107650
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Co...	OMIM:619955
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten...	ORPHA:467166
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Decreased circulating total IgM, Lateral ventricle dilatation, Decreased circulatin...	OMIM:612301
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Gapo Syndrome	Dysmenorrhea, Optic atrophy, Oligozoospermia, Hypogonadism, Amenorrhea	ORPHA:2067
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob...	OMIM:300755
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy...	ORPHA:505248
Roifman Syndrome	Hepatosplenomegaly, Decreased T cell activation, Eosinophilia, Decreased circulating antibody level	ORPHA:353298
Igg4-Related Dacryoadenitis And Sialadenitis	Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti...	ORPHA:79078
Hemophagocytic Lymphohistiocytosis, Familial, 2	Reduced natural killer cell activity	OMIM:603553
Kennedy Disease	Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula...	ORPHA:481
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Acute Lung Injury	Addictive alcohol use, Increased circulating interleukin 6 concentration, Abnormality of serum cy...	ORPHA:178320
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ...	ORPHA:1163
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph...	OMIM:301078
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro...	ORPHA:90362
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Autoimmune antibody positivity, Falls, Difficult...	ORPHA:3198
Igg4-Related Submandibular Gland Disease	Autoimmunity, Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Xe...	ORPHA:449432
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination, Ataxia, Impulsivity, Tremor, Unsteady gait, Seizure, Status epilepticus, My...	ORPHA:442835
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Decreased thalamic volume, Dystonia	OMIM:618646
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Seizure, Dysphagia, Hypothyroidism, Testic...	OMIM:222300
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In...	ORPHA:542323
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop...	OMIM:602450
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48104
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Leukemia, Memory impairment, Cryoglo...	ORPHA:33226
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Promi...	OMIM:617281
Superficial Siderosis	Ataxia, Partial anosmia, Unsteady gait, Anosmia, Dysmetria, Limb ataxia, Seizure, Progressive gai...	ORPHA:247245
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Autoimmunity, Increased circulating interferon...	ORPHA:158061
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, Anosmia, Absent n...	ORPHA:2250
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Endometriosis, Dysplastic corpus callosum, Micropenis	ORPHA:363444
Wilson Disease	Hypoparathyroidism, Limb dystonia, Tremor, Hand tremor, Dysphagia, Seizure, Dementia, Dystonia, H...	OMIM:277900
Moebius Syndrome	Breast aplasia, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Dysphagia	ORPHA:570
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Hermansky-Pudlak Syndrome 2	Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity	OMIM:608233
Coccidioidomycosis	Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ...	ORPHA:228123
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Focal emotional seizure with crying, Hypothalamic hamartoma, Micropenis, ...	OMIM:241800
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Confusion, Lymphadenitis, Mental deterioration, C...	ORPHA:449427
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmunity, Autoimmune thrombocytopenia, Antinucl...	ORPHA:331235
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp...	ORPHA:85450
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Acro-Renal-Mandibular Syndrome	Bicornuate uterus, Uterus didelphys, Abnormality of the sense of smell	ORPHA:958
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Atopic dermatitis	ORPHA:2902
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Aarskog-Scott Syndrome	Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypt...	OMIM:305400
Iga Pemphigus	Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmun...	ORPHA:555905
Igg4-Related Thyroid Disease	Autoimmunity, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Anti-thyroid ...	ORPHA:64744
Primary Ciliary Dyskinesia	Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility	ORPHA:244
Hyperostosis Cranialis Interna	Hyposmia, Anosmia	OMIM:144755
Brucellosis	Liver abscess, Rheumatoid factor positive, Lung abscess, Orchitis, Hypersplenism, Leukocytosis, T...	ORPHA:1304
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Ataxia, Anteverted nares, Prominent nose, Depressed nasal bridge,...	ORPHA:435638
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis	OMIM:619718
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Campomelic Dysplasia	Ambiguous genitalia, Male pseudohermaphroditism, Depressed nasal bridge, Abnormality of the sense...	ORPHA:140
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse...	ORPHA:786
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Chronic otitis media	ORPHA:2314
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intens...	ORPHA:309155
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Steppage gait, Anosmia	OMIM:601152
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Refsum Disease, Classic	Anosmia, Ataxia	OMIM:266500
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
Oculoskeletodental Syndrome	Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Abnormal...	ORPHA:557003
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Absent septum pellucidum, Cryptorchidism, Dysplastic corpus callosum, ...	OMIM:618820
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosu...	ORPHA:544488
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Diabetic ketoacidosis, Increased circulating inte...	ORPHA:70578
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Delayed CNS myelination, Tonic seizure, CNS hypomyelination, Irrita...	OMIM:618367
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Broad-based gait, Premature...	ORPHA:2959
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge	OMIM:210745
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Agenesis of corpus callosum	ORPHA:1493
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci...	ORPHA:29073
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Delayed CNS myelination, Inability to walk, Depression, Seizure	OMIM:620114
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Refsum Disease	Anosmia, Ataxia	ORPHA:773
Musk, Inability To Smell	Anosmia	OMIM:254150
Prolidase Deficiency	Splenomegaly, Systemic lupus erythematosus, Anemia, Increased circulating antibody level, Thrombo...	OMIM:170100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Ciliary Dyskinesia, Primary, 1	Male infertility, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis	OMIM:244400
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Myotonic Dystrophy 1	Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy	OMIM:160900
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Neutrophilia, Pancytopenia, Confusion, Orchitis, Thrombocytopenia, Leukocytos...	ORPHA:99827
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Autoimmunity, Depression, Opisthotonus, Myocloni...	OMIM:184850
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Sandhoff Disease	Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Progressive psychomotor det...	OMIM:268800
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Seizure, Unsteady gait, Agenesis of corpus callosum	OMIM:617542
Acute Disseminated Encephalomyelitis	Anti-myelin oligodendrocyte glycoprotein antibody positivity, Ataxia, Confusion, Aggressive behav...	ORPHA:83597
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co...	OMIM:601495
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity	ORPHA:90003
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Encephalitis Lethargica	Mental deterioration, Increased circulating antibody level, Autoimmunity	ORPHA:83600
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Cryptorchidism, Anosmia, Primary ame...	OMIM:603457
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Autoimmunity, Splenomegaly, Thyroiditis, Hepatosplenomegaly, Poly...	ORPHA:171
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Dysphagia, Short columella, Hypothalamic hamartoma, Impa...	OMIM:619775
Leopard Syndrome 1	Hypospadias, Cryptorchidism, Depressed nasal ridge, Micropenis, Hypoplasia of the ovary, Aplasia ...	OMIM:151100
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Ataxia, Oral-pharyngeal dysphagia, Inabil...	ORPHA:254930
Leukodystrophy, Hypomyelinating, 13	Delayed CNS myelination, Exaggerated startle response, Ataxia, Irritability, Leukodystrophy	OMIM:616881
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Cryptorchi...	ORPHA:138
Parkinson Disease 8, Autosomal Dominant	Hyposmia, Resting tremor, Dementia	OMIM:607060
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Microcephaly, Oligozoospermia	OMIM:614813
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Pituitary hypot...	ORPHA:66628
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Agitat...	OMIM:618056
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Ebola Hemorrhagic Fever	Acute pancreatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia	ORPHA:319218
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Impaired T cell function, Abnormal lymphocyte physiology, Auto...	ORPHA:1830
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Focal-onset seizure, Decreased thalamic volume, Myoclonic seizure	OMIM:619072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Absent septum pellucidum, Cortical dysplasia, Optic nerve dysplasia, Anencephaly, Abnormal cerebr...	OMIM:615287
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenor...	OMIM:157640
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Pituitary hypot...	ORPHA:179494
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir...	OMIM:300972
Lesch-Nyhan Syndrome	Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Seizure, Dystonia, Testicular ...	OMIM:300322
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Akinesia, Tremor, Abnormal pancreas morphology, Abnormal ...	ORPHA:48818
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Cryptorchidism, Exaggerated startle response, Myoclonic seizure	OMIM:620327
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Anteverted nares, B...	ORPHA:438216
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Bilateral tonic-clonic seizure, Decreased circulating antibody ...	OMIM:618165
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Cryptorchidism, Anosmia, Hypogonadism	OMIM:613266
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Thyroiditis, T lympho...	ORPHA:83471
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, CNS hypomyelination	OMIM:619423
Cerebrofacioarticular Syndrome	Hypospadias, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, Hypoplasia of the...	ORPHA:314679
Insulin-Resistance Syndrome Type B	Autoimmunity, Decreased circulating complement factor B concentration, Increased circulating IgA ...	ORPHA:2298
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Oligozoospermia, Azoospermia, Retinopathy	ORPHA:125
Mogs-Cdg	Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea...	ORPHA:79330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis...	ORPHA:99829
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Myoclonus	OMIM:619057
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr...	ORPHA:449395
Pure Autonomic Failure	Impotence, Abnormality of circulating catecholamine level	ORPHA:441
Orofaciodigital Syndrome Type 6	Ataxia, Prominent nasal bridge, Broad nasal tip, Tremor, Bilateral cryptorchidism, Seizure, Gait ...	ORPHA:2754
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Inability to walk, Irritability, Seizure, Sta...	OMIM:617864
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Generalized-onset seizure, Delayed myelination, Congenital hypothyr...	OMIM:617527
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Agitation, Ataxia, Status epilepticus	OMIM:619046
Leigh Syndrome	Ataxia, Progressive neurologic deterioration, Infantile spasms, Abnormal thalamic MRI signal inte...	ORPHA:506
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia	OMIM:617591
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Monosomy 18Q	Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Bulbous nose, Choreoathetosis, ...	ORPHA:1600
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Anteverted nares, Decreased response to...	OMIM:146510
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy...	OMIM:242840
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev...	ORPHA:77259
Asparagine Synthetase Deficiency	Exaggerated startle response, Tremor, Clonic seizure, Delayed myelination, Irritability, Seizure,...	OMIM:615574
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Anteverted nares, Testicular atrophy	OMIM:601163
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Glomus jugular tumor, Adrenal pheochromocytoma, Para...	OMIM:605373
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Epileptic spasm, Broad-based gait, Precocious puberty, Cryptorchidi...	ORPHA:438213
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpu...	OMIM:614924
Orofaciodigital Syndrome Type 14	Microcephaly, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Peri...	ORPHA:434179
Q Fever	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin IgG antibody po...	ORPHA:781
Lacrimoauriculodentodigital Syndrome	Choanal atresia, Cryptorchidism, Anosmia, Seizure, Bicornuate uterus, Dysphagia, Abnormal salivar...	ORPHA:2363
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Epileptic spasm, Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, Seizure, D...	ORPHA:485421
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Chordee, Agenesis of corpu...	OMIM:151050
Cysticercosis	Confusion, Dementia, Increased circulating antibody level, Mental deterioration, Memory impairment	ORPHA:1560
Cystic Echinococcosis	Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess	ORPHA:400
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity, Depression, Gait ataxia, Seizure, Myoclonus, Cognitive im...	ORPHA:70595
Charge Syndrome	Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:214800
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos...	OMIM:260920
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Cerebral cortical atrophy, Epididymal c...	OMIM:137920
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function	OMIM:201100
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T...	OMIM:300607
Combined Oxidative Phosphorylation Defect Type 23	Seizure, Abnormal thalamic MRI signal intensity, Cognitive impairment, Leukodystrophy	ORPHA:444013
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Delayed myelination, Seizure, Dystonia, Impaired oropharyngeal swal...	ORPHA:521426
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Decreased circulating antibody level, Decreased c...	ORPHA:90363
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Immunodeficiency 58	Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a...	OMIM:618131
Occipital Horn Syndrome	Abnormality of the sense of smell, Dysphagia	ORPHA:198
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy...	OMIM:208900
Poems Syndrome	Polycythemia, Primary adrenal insufficiency, Increased circulating antibody level, Thrombocytosis...	ORPHA:2905
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti...	ORPHA:465508
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp...	OMIM:610377
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Otitis media, Recurre...	ORPHA:420741
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Waardenburg Syndrome, Type 2E	Cerebral hypomyelination, Anosmia	OMIM:611584
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ...	OMIM:620005
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Difficulty ...	ORPHA:320406
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Dementia, Increased circulating antibody level, Thrombocytopenia	ORPHA:77261
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination, Thin corpus callosum, Reduced cerebral white matter volume, Microcephaly	OMIM:617333
Tetrasomy 9P	Absent gallbladder, Hyperactivity, Cryptorchidism, Bulbous nose, Oligozoospermia, Systemic lupus ...	ORPHA:3310
Primary Sjögren Syndrome	Normocytic anemia, Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Xerosto...	ORPHA:289390
Igg4-Related Ophthalmic Disease	Eosinophilia, Increased circulating IgG4 level, Orchitis, Antinuclear antibody positivity, Increa...	ORPHA:449563
Congenital Muscular Dystrophy With Cerebellar Involvement	Seizure, Agenesis of corpus callosum, Decreased thalamic volume	ORPHA:370959
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Scleromyxedema	Paraproteinemia, Abnormality of thyroid physiology	ORPHA:167635
Familial Acute Necrotizing Encephalopathy	Seizure, Abnormal thalamus morphology, Gait disturbance	ORPHA:88619
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Hypoth...	OMIM:206900
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Depressed nasal ridge, Micropenis, Pa...	ORPHA:672
Rhombencephalosynapsis	Anteverted nares, Ataxia, Abnormality of the uterus, Fusion of the left and right thalami, Short ...	ORPHA:59315
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure	ORPHA:163985
Tay-Sachs Disease	Psychomotor deterioration, Seizure, Exaggerated startle response, Dementia	OMIM:272800
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Status epilepticus, Myoclonus	OMIM:618201
Hyperekplexia 3	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Anteverted nares, Depressed nasal bridge, Dysphagia	OMIM:617301
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Myoclonic seizure, Seizure, Dementia, Dystonia	OMIM:272750
Autosomal Dominant Polycystic Kidney Disease	Reduced sperm motility	ORPHA:730
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Inability to walk, Unstead...	ORPHA:3063
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Abnormal myelination, Generalized myoclonic seizure, Infantile spasms, Atonic seizure, Inability ...	ORPHA:404454
Al Amyloidosis	Xerostomia, Howell-Jolly bodies, Increased circulating antibody level, Anemia	ORPHA:85443
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An...	ORPHA:284
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavi...	ORPHA:353277
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, Abnormal myelination, C...	ORPHA:280210
Celiac Disease, Susceptibility To, 1	Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis, Decreased circulating IgA level	OMIM:212750
Sweet Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:3243
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Hypospadias, Anteverted nares, Broad nasal tip, Long nose, Cryptorc...	OMIM:619522
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased circulating total IgG, Pneumonia, Skin rash, Recurrent skin infections, ...	OMIM:619381
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Seizure, Exaggerated startle response, Agenesis of corpus callosum	OMIM:253800
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Hyperekplexia 1	Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures	OMIM:149400
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hashimoto thyroiditis, Decreased circulating IgA level	OMIM:613385
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353281
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Antinuclear antibody positivity, Thrombocy...	ORPHA:470
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Holoprosencephaly 7	Flat nasal alae, Partial agenesis of the corpus callosum, Panhypopituitarism, Wide nasal bridge, ...	OMIM:610828
Norrie Disease	Narrow nasal bridge, Diabetes mellitus, Cryptorchidism, Irritability, Self-injurious behavior, Se...	ORPHA:649
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Hyperekplexia 2	Exaggerated startle response, Myoclonus	OMIM:614619
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Postinfectious Vasculitis	Rheumatoid factor positive, Increased circulating IgA level, Orchitis, Cytoplasmic antineutrophil...	ORPHA:48435
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, Seizure, Dystonia	ORPHA:79255
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Orofaciodigital Syndrome I	Underdeveloped nasal alae, Pancreatic cysts, Wide nasal bridge, Ovarian cyst, Seizure, Hypothalam...	OMIM:311200
Oculocerebral Hypopigmentation Syndrome, Preus Type	Seizure, Abnormality of the diencephalon, Ataxia	ORPHA:2720
Psoriasis-Related Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion	ORPHA:85436
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, CNS hypomyelination, Depressed nasal tip, Seizure, Fusion of the left and righ...	OMIM:619306
Williams Syndrome	Hypoplasia of penis, Tremor, Dysmetria, Compulsive behaviors, Abnormality of the diencephalon, Ab...	ORPHA:904
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an...	ORPHA:91500
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function	OMIM:192430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D...	ORPHA:466768
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level	OMIM:613327
Sarcoidosis, Susceptibility To, 1	Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia	OMIM:181000
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Bilateral cryptorchidism, Cryptorchidism, Dysplastic corpus callosum, Hypoplasia of the corpus ca...	ORPHA:466791
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Hypot...	OMIM:615846
White-Kernohan Syndrome	Dysplastic corpus callosum, Rectovaginal fistula	OMIM:619426
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Bickerstaff Brainstem Encephalitis	Ataxia, Confusion, Autoimmune antibody positivity, Abnormal thalamic MRI signal intensity, Acute ...	ORPHA:79138
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology	ORPHA:2237
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Confusion, Orchitis, Neutrophilia in presence of infection, Leukope...	ORPHA:99826
Orofaciodigital Syndrome Vi	Agenesis of corpus callosum, Hypothalamic hamartoma, Broad nasal tip	OMIM:277170
Witteveen-Kolk Syndrome	Delayed CNS myelination, Unilateral cryptorchidism, Hypospadias, Phimosis, Microcephaly, Dysplast...	OMIM:613406
Hydranencephaly	Thalamic edema, Opisthotonus, Seizure, Dysgenesis of the thalamus, Atrophic pituitary gland	ORPHA:2177
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Dubowitz Syndrome	Decreased circulating IgG level, Eczema, Otitis media, Decreased circulating IgA level	OMIM:223370
Cockayne Syndrome Type 3	Optic disc pallor, Cerebral white matter atrophy, Retinal atrophy, Retinal dystrophy, Peripheral ...	ORPHA:90324
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Degcags Syndrome	Abnormal myelination, Hypospadias, Prominent nasal bridge, Anteverted nares, Oral-pharyngeal dysp...	OMIM:619488
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Zttk Syndrome	Dysplastic corpus callosum, Optic atrophy, Abnormal cerebral white matter morphology, Hypoplasia ...	OMIM:617140
Hereditary Cryohydrocytosis With Reduced Stomatin	Seizure, Delayed myelination, Ataxia, Decreased thalamic volume	ORPHA:168577
Acute Bilirubin Encephalopathy	Seizure, Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Seizure, Abnormal thalamic MRI signal intensity	ORPHA:529808
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Autoimmunity, Impaired T cell function, Splenomegaly, Hypopl...	ORPHA:567
Gaucher Disease	Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia	ORPHA:355
Viss Syndrome	Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG level, Hypothyroidi...	OMIM:619472
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Dystonia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal...	ORPHA:309854
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Simplified gyral pattern, Abno...	ORPHA:500150
Parenteral Nutrition-Associated Cholestasis	Biliary hyperplasia, Cholelithiasis, Abnormality of cytokine secretion	ORPHA:567983
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit...	ORPHA:544482
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Attention deficit hyper...	OMIM:188400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Seizure	ORPHA:464321

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 Fyn

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 Fyn.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Fyn^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Fyn^{tm1a(EUCOMM)Wtsi}	PMC6459510

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MGI Allele	Allele Type	Produced
Fyn^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Fyn^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fyn MGI:95602

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

X-ray

X-ray

Legacy Phenotype Associated Images

Human diseases caused by Fyn mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data