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Gene: Mybl1 MGI:99925

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myeloblastosis oncogene-like 1
Synonyms:
A-myb,  G1-419-6,  repro9

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mybl1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Mybl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 75
Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf... OMIM:619949
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Spermatogenic Failure 17
Male infertility OMIM:617214
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
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
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Spermatogenic Failure 14
Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula... OMIM:615842
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Premature skin wrinkling, Anterior hypopituitarism, Microphallus, Growth delay, ... ORPHA:631
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Decreased testicular size, Elevated circulating luteinizing hormone lev... OMIM:229070
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Abnormality of the hypothala... ORPHA:2183
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogona... OMIM:614840
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Microphthalmia, Syndromic 8
Cryptorchidism, Premature skin wrinkling OMIM:601349
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... ORPHA:277
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko... OMIM:615285
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Premature graying of hair, Decreased response to growth hormone stimulation test... ORPHA:280679
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Low posterior hairline, Aplasia/hypoplasia of the uterus, Short s... ORPHA:2578
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Immunodeficiency 102
Hepatomegaly, Anemia, Decreased circulating total IgM, Partial absence of specific antibody respo... OMIM:301082
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Low posterior hairline, Short stature, Ambiguous genitalia, Primary gonadal insuffic... ORPHA:261519
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Transaldolase Deficiency
Abnormal clitoris morphology, Premature skin wrinkling, Telangiectasia ORPHA:101028
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Ring Chromosome 21 Syndrome
Diabetes insipidus, Cutaneous photosensitivity, Azoospermia, Infertility, Short stature, Amenorrhea ORPHA:1445
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Hepatomegaly, Med... OMIM:615559
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased... OMIM:209950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Hemochromatosis, Type 1
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Telangiecta... OMIM:235200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill... ORPHA:331206
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Postnatal growth retardation, Decreased response to growth hormone sti... OMIM:300845
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:603909
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... OMIM:620210
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly ORPHA:100025
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Prematurely aged appearance, Abnormal hair quantity... ORPHA:2617
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long... ORPHA:3051
Ataxia-Telangiectasia
Delayed puberty, Premature graying of hair, Hypopigmentation of hair, Prematurely aged appearance... ORPHA:100
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia OMIM:618300
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance, Low posterior hairline, Short stature, Cryptorchidism, Hypogonadotro... ORPHA:1387
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor, Hypogonadism, Azoospermia OMIM:615234
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Immunodeficiency, Common Variable, 6
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:613496
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:169160
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ... OMIM:102700
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Cog5-Cdg
Abnormality of the frontal hairline, Premature skin wrinkling, Short stature, Intrauterine growth... ORPHA:263487
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased lymphocyte proliferation in resp... ORPHA:276
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma... OMIM:150550
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
49,Xxxxy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Excessive shyness, Decreased testicular size, Shor... ORPHA:96264
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Short Syndrome
Premature skin wrinkling, Reduced subcutaneous adipose tissue, Ovarian cyst, Intrauterine growth ... OMIM:269880
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Ring Chromosome 22 Syndrome
Inappropriate behavior, Thick eyebrow, Growth delay, Azoospermia ORPHA:1446
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
48,Xxxy Syndrome
Abnormal social behavior, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular siz... ORPHA:96263
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Growth delay, Hypogo... ORPHA:300298
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutaneous photosensitivity, Panhypopituitarism, Tiger tail bandi... OMIM:300953
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6 concentration, Lymphadenopathy, Asplenia, Coomb... OMIM:614034
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Barber-Say Syndrome
Dermal translucency, Premature skin wrinkling, Redundant skin, Hypoplastic labia minora, Hypoplas... OMIM:209885
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Bloom Syndrome
Postnatal growth retardation, Facial erythema, Azoospermia, Cutaneous photosensitivity, Growth de... OMIM:210900
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen... OMIM:226990
Myoclonic-Astatic Epilepsy
Frontal balding, Reduced social reciprocity, Premature skin wrinkling ORPHA:1942
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Low posterior hairline, Cervix cancer,... ORPHA:1772
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Short stature, ... ORPHA:251066
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Reduced natur... OMIM:619374
Werner Syndrome
Premature graying of hair, Thyroid carcinoma, Aplasia/Hypoplasia of the testes, Ovarian neoplasm,... ORPHA:902
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Acrogeria
Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Short stature, Telangiectasia o... ORPHA:2500
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Fg Syndrome Type 1
Hypospadias, Abnormal social behavior, Small pituitary gland, Facial wrinkling, Short stature, Fr... ORPHA:93932
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopen... ORPHA:83313
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cryptorchidism, Growth delay, Patent ductus arteriosus OMIM:614857
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Excessive wrinkling of palmar skin, Severe short st... OMIM:210700
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Sparse scalp hair, Low p... OMIM:601358
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Bone Marrow Failure Syndrome 5
Nail dystrophy, Short stature, Growth delay, Hypogonadism, Testicular atrophy OMIM:618165
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Cog7-Cdg
Postnatal growth retardation, Jaundice, Excessive wrinkled skin ORPHA:79333
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Thick hair, Sacral hypertrichosis, Cutis laxa, Short stature, Low anter... ORPHA:363705
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
H Syndrome
Delayed puberty, Azoospermia, Decreased testicular size, Short stature, Abnormal eyebrow morpholo... ORPHA:168569
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Excessive wrinkled skin, Cutis laxa, Sparse hair, Intrauterine growth retard... OMIM:614438
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Cutis laxa, Sparse eyebrow, Short stature, Growth delay, Tes... ORPHA:75496
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Werner Syndrome
Alopecia of scalp, Prematurely aged appearance, Short stature, Hypogonadism, Subcutaneous calcifi... OMIM:277700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Alg8-Cdg
Cutis laxa, Premature skin wrinkling, Intrauterine growth retardation, Abnormality of subcutaneou... ORPHA:79325
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating... OMIM:617388
Laron Syndrome
Delayed puberty, Abnormality of the endocrine system, Prematurely aged appearance, Hypoplasia of ... ORPHA:633
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Keppen-Lubinsky Syndrome
Decreased testicular size, Postnatal growth retardation, Premature skin wrinkling, Progeroid faci... ORPHA:435628
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Cutis Laxa, Autosomal Dominant 3
Postnatal growth retardation, Premature skin wrinkling, Cutis laxa, Intrauterine growth retardati... OMIM:616603
Fontaine Progeroid Syndrome
Redundant skin, Low posterior hairline, Intrauterine growth retardation, Small scrotum, Cryptorch... OMIM:612289
Gapo Syndrome
Prematurely aged appearance, Oligozoospermia, Sparse eyelashes, Short stature, Sparse eyebrow, Dy... ORPHA:2067
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Jaundice, Secondary amenorrhe... ORPHA:79239
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Progeroid facial appearance, Premature ovarian insufficiency, Neoplasm of the pa... ORPHA:2959
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Ovarian neoplasm, Excessive wrinkled skin ORPHA:137608
Geroderma Osteodysplasticum
Premature skin wrinkling, Abnormal hair morphology, Cutis laxa, Severe short stature, Neonatal wr... OMIM:231070
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Myotonic Dystrophy 1
Cholelithiasis, Frontal balding, Testicular atrophy, Hypogonadism OMIM:160900
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
De Barsy Syndrome
Postnatal growth retardation, Dermal translucency, Excessive wrinkled skin, Prominent veins on tr... ORPHA:2962
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Absent eyelashes, Hypoplastic nipples, Redundant skin, Dry skin, Absent... OMIM:200110
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... OMIM:614732
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased circulating antibody level... OMIM:601495
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... OMIM:300972
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Nail dystrophy, Testicular atrophy OMIM:613987
Dystonia 31
Abnormal posturing OMIM:619565
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Progeroid facial appearance, Infertility, Delayed menarche, Hypothyroidism, Oligomenorrhea, Type ... ORPHA:412057
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Cutaneous photosensitivity, Sever... ORPHA:125
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin, Hypospadias, Short stature, Growth delay, Intrauterine growth retardatio... ORPHA:500
Opitz-Kaveggia Syndrome
Hypospadias, Facial wrinkling, Cryptorchidism, Short stature, Sparse hair, Frontal upsweep of hai... OMIM:305450
Cockayne Syndrome Type 2
Intrauterine growth retardation, Progeroid facial appearance, Male hypogonadism, Cryptorchidism ORPHA:90322
Ehlers-Danlos Syndrome, Classic-Like, 2
Prematurely aged appearance, Redundant skin, Low posterior hairline, Thin eyebrow, Bruising susce... OMIM:618000
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h... OMIM:616113
Fanconi Anemia, Complementation Group A
Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227650
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Silver-Russell Syndrome 3
Postnatal growth retardation, Penoscrotal hypospadias, Unilateral cryptorchidism, Short stature, ... OMIM:616489
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... ORPHA:699
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Abnormal female external genitalia morphology, Excessive wrinkled skin, Hypopl... ORPHA:920
Autoimmune Hepatitis
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Acute hepatiti... ORPHA:2137
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D... OMIM:275350
Chromosome Xp11.3 Deletion Syndrome
Short stature, Cryptorchidism, Progeroid facial appearance OMIM:300578
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Prematurely aged appearance, Redundant skin, Cutis laxa, ... ORPHA:2963
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Jaundice, Hepatomegaly, Anemia, Abnormal nat... ORPHA:79124
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Portal hypertension, Decreased circulating IgG level, Severe B lymphocy... OMIM:620005
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Cockayne Syndrome
Delayed puberty, Postnatal growth retardation, Premature skin wrinkling, Cutaneous photosensitivi... ORPHA:191
Ogden Syndrome
Postnatal growth retardation, Redundant neck skin, Jaundice, Maternal diabetes, Prematurely aged ... OMIM:300855
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Alopecia of scalp, Azoospermia, Pancreatic... OMIM:602782
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Hypospadias, Bifid scrotum, Microphallus, Hypothyroidism, Abnormal ... ORPHA:397590
Autosomal Recessive Cutis Laxa Type 2A
Postnatal growth retardation, Excessive wrinkled skin, Thick hair, Intrauterine growth retardatio... ORPHA:357058
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ... OMIM:612301
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Short stature, Elevated circulating follicle stimulati... OMIM:305400
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Increased circulating IgA level, Paratracheal lymphadeno... OMIM:615934
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Excessive wrinkled skin, Sparse or absent eyelashes, Brittle hair, Slow-g... ORPHA:1340
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Low anterior hairline, Sparse hair, Aged leonine appearance, Absent lower eyelashes OMIM:227260
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:242860
Wiedemann-Rautenstrauch Syndrome
Alopecia of scalp, Hypospadias, Increased serum testosterone level, Long penis, Broad eyebrow, Pr... OMIM:264090
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic... OMIM:615415
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Sparse hair, Intrauterine growth retardation, Decreased r... ORPHA:3455
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Abnormal subcutaneous fat tissue distribution, Postnatal growth retardation, Redundant neck skin,... ORPHA:357074
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Dystrophic fingernails, Loss of eyelashes, Premature skin wrinkl... ORPHA:740
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Wolfram Syndrome 1
Diabetes insipidus, Hypothyroidism, Growth delay, Diabetes mellitus, Testicular atrophy OMIM:222300
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:600901
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Short stature, Intrauterine growth retardation, Progeroid facial appearance ORPHA:50811
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Prematurely aged appearance, Redundant skin, Distichiasis, Sparse lateral ... ORPHA:1807
Xeroderma Pigmentosum, Complementation Group B
Short stature, Cutaneous photosensitivity, Hypogonadism, Progeroid facial appearance OMIM:610651
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... ORPHA:91351
Stuve-Wiedemann Syndrome 1
Intrauterine growth retardation, Premature skin wrinkling, Sparse hair, Short stature OMIM:601559
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Premature ov... ORPHA:96179
Cutis Laxa, Autosomal Recessive, Type Iia
Excessive wrinkled skin, Brittle hair, Abnormality of hair texture, Redundant skin, Cutis laxa, I... OMIM:219200
Wrinkly Skin Syndrome
Redundant skin, Short stature, Short nail, Sparse hair, Intrauterine growth retardation, Palmopla... OMIM:278250
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Increased circulating antibody level,... ORPHA:449432
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Decreased circulating IgA level, H... OMIM:613385
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... OMIM:208900
Woodhouse-Sakati Syndrome
Delayed puberty, Scaling skin, Decreased response to growth hormone stimulation test, Hypoplasia ... ORPHA:3464
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Eosinophilia, Decreased circ... OMIM:618282
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Sclerosing cholangitis, Increased circulating IgG level, Increas... OMIM:243700
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Purpura, Primary testicular failure, Petechiae, Oligozoospermia, Abnormal testi... ORPHA:85450
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Sparse axillary hair, Sparse facial hair, Intrauterine growth retardation, Progero... OMIM:608154
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Cockayne Syndrome A
Dry hair, Cutaneous photosensitivity, Prematurely aged appearance, Severe postnatal growth retard... OMIM:216400
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Excessive wrinkled skin, Sparse scalp hair, Short stat... ORPHA:3322
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Patent ductus arteriosus, Decreased fert... ORPHA:84
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Pulmonary ... ORPHA:363618
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Redundant skin, Lack of skin elasticity, Intrauterine growth retardation... OMIM:612940
Acquired Partial Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79087
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Frontal balding, Increased urinary cortisol leve... ORPHA:786
Cockayne Syndrome Type 1
Postnatal growth retardation, Cutaneous photosensitivity, Cryptorchidism, Male hypogonadism, Prog... ORPHA:90321
Atypical Werner Syndrome
Delayed puberty, Premature graying of hair, Abnormal hair whorl, White forelock, Hypogonadism, Fa... ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Progeroid facial appearance, Breast aplasia, Prematurely aged appearance, Absent eyelashes, Short... ORPHA:90153
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:227645
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Ectodermal dysplasia, Absent nipple,... OMIM:614941
Arthrogryposis Multiplex Congenita 5
Intrauterine growth retardation, Premature skin wrinkling, Growth delay OMIM:618947
Trichothiodystrophy
Gonadal dysgenesis, Dystrophic fingernails, Alopecia of scalp, Brittle hair, Cutaneous photosensi... ORPHA:33364
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cutaneous photosensitivity, Prematurely aged appearance, Dry ski... OMIM:610965
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Heterotaxy, Visceral, 2, Autosomal
Polysplenia, Abdominal situs inversus, Asplenia OMIM:605376
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology... ORPHA:293978
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:79330
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Redundant neck skin, Premature skin wrinkling, Prematurely aged app... ORPHA:90348
Short Syndrome
Excessive wrinkled skin, Severe short stature, Sparse hair, Diabetes mellitus, Alopecia ORPHA:3163
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Secondary amenorrhea, Decreased serum leptin, Reduced subcutaneous adi... ORPHA:280365
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion... OMIM:619381
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Asplenia OMIM:619123
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... OMIM:618213
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Lymphadenopathy, D... ORPHA:331235
Fanconi Anemia, Complementation Group D2
Annular pancreas, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227646
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia, Abnormal T cell count OMIM:307200
Thanatophoric Dysplasia Type 1
Redundant skin, Lethal short-limbed short stature, Excessive wrinkled skin, Patent ductus arteriosus ORPHA:1860
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, External genital hypoplasia, Hypospadias, Prematurely aged appearance, Redundant skin... ORPHA:2658
Wrinkly Skin Syndrome
Postnatal growth retardation, Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hand... ORPHA:2834
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Cockayne Syndrome B
Postnatal growth retardation, Abnormal hair morphology, Cutaneous photosensitivity, Prematurely a... OMIM:133540
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Excessive wrinkled skin, Prematurely aged appearance, Long eyelashes, Pre... OMIM:619950
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Increased B ce... OMIM:620376
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I... OMIM:620040
Lesch-Nyhan Syndrome
Short stature, Testicular atrophy OMIM:300322
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Interlobular bile duct destruction,... ORPHA:562639
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Cutis laxa, Uterine prolapse, Poor wound healing, Pr... OMIM:123700
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Skin ulcer, Cholelithiasis, Azoospermia, Growth delay, Ecchymosis, Poor wound he... ORPHA:2072
Congenital Disorder Of Glycosylation, Type Iie
Jaundice, Excessive wrinkled skin, Short stature, Growth delay, Low anterior hairline, Intrauteri... OMIM:608779
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... OMIM:278800
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Hypothyroidism, Short stature, Sparse hair, Progeroid facial appearance OMIM:617763
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Cholelithiasis, Asplenia OMIM:240300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Hepatomegaly, Decreased circulating IgA level OMIM:606056
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Skin ul... ORPHA:534
Vici Syndrome
Abnormal posturing, Postnatal growth retardation, Hypopigmentation of hair, Abnormal thymus morph... OMIM:242840
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Facial wrinkling, Sparse scalp hair, Dry skin, Lack of faci... OMIM:606721
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Splenomegaly, Decreased circulating IgA level OMIM:613327
Recon Progeroid Syndrome
Scaling skin, Progeroid facial appearance, Cutaneous photosensitivity, Hirsutism, Dry skin, Short... OMIM:620370
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Pseudoxanthoma Elasticum
Excessive wrinkled skin, Hypothyroidism, Lack of skin elasticity, Telangiectasia of the skin, Bru... ORPHA:758
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Progeroid facial appearance, Nail dystrophy, Abnormal hair morphology, Premature... ORPHA:90154
Down Syndrome
Delayed puberty, Prematurely aged appearance, Short stature, Type II diabetes mellitus, Hyperthyr... ORPHA:870
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Generalized hirsutism, Insulin-resistant diabetes mellitus, Polycystic ovaries,... ORPHA:79086
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Cholangitis, Recurrent tonsillitis, Viral hepatitis, Decreased specific pneumococc... ORPHA:183675
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Mandibuloacral Dysplasia With Type B Lipodystrophy
Progeroid facial appearance, Decreased adipose tissue around neck, Hyperinsulinemia, Brittle hair... OMIM:608612
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Severe short stature, Abnormality of subcutaneous fat tissue ORPHA:1901
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, B lymphocytopen... ORPHA:391487
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Absent nipple, Dry ski... OMIM:305100
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Synophrys, Short stature, Sparse eyebrow, Cryptorch... ORPHA:3063
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG lev... ORPHA:1304
Riddle Syndrome
Decreased circulating total IgM, Generalized lymphadenopathy, Decreased circulating IgG level, De... ORPHA:420741
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, D... ORPHA:90363
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... ORPHA:83617
Coccidioidomycosis
Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Increased circulating IgG level, Gran... ORPHA:228123
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Pancreatitis, Lymphadenopathy, Sclerosing chol... ORPHA:449395
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Campomelia, Cumming Type
Prematurely aged appearance, Pancreatic cysts ORPHA:1318
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin, Severe short stature, Growth delay ORPHA:2078
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Nestor-Guillermo Progeria Syndrome
Progeroid facial appearance, Nail dystrophy, Decreased serum leptin, Sparse scalp hair, Dry skin,... OMIM:614008
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Periorbital wrinkles, Sparse eyelashes, Sparse eyebrow, Sparse hair, Hypohidrotic ectodermal dysp... OMIM:224900
Rift Valley Fever
Jaundice, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytope... ORPHA:319251
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Noonan Syndrome 1
Postnatal growth retardation, Male infertility, Hypospadias, Dry skin, Low posterior hairline, Wo... OMIM:163950
Saul-Wilson Syndrome
Postnatal growth retardation, Short stature, Intrauterine growth retardation, Prominent superfici... OMIM:618150
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Highly arched eyebrow, Periorbital wrinkles, Absent nipple, Synophrys, M... ORPHA:1299
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Premature graying of hair, Erythe... OMIM:256040
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cutaneous photosensitivity, Prematurely aged appearance, Dry skin, Short stature, Urticaria ORPHA:220295
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Meckel Syndrome
Accessory spleen, Asplenia, Congenital hepatic fibrosis, Cystic liver disease, Pancreatic fibrosi... ORPHA:564
Seckel Syndrome
Prematurely aged appearance, Sparse scalp hair, Intrauterine growth retardation, Short stature ORPHA:808
Vascular Ehlers-Danlos Syndrome
Dermal translucency, Excessive wrinkled skin, Hypospadias, Uterine rupture, Prematurely aged appe... ORPHA:286
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Prematurely aged appearance, Prom... OMIM:601812
Ataxia-Telangiectasia-Like Disorder 2
Cutaneous telangiectasia, Cutaneous photosensitivity, Conjunctival telangiectasia, Short stature,... OMIM:615919
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Bruising susceptibility, Poor wound healing, Palmoplantar cutis laxa, Excessive wrinkled skin OMIM:225400
Williams Syndrome
Cholelithiasis, Hypoplasia of penis, Abnormal social behavior, Prematurely aged appearance, Redun... ORPHA:904
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Cervical insufficiency, Fragile skin, Uterine prolapse, Ecchymosis, ... ORPHA:287
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Abdominal situs inversus OMIM:306955
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Acute pan... ORPHA:99827
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Bruising susceptibility, Pr... OMIM:616914
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Abdominal situs inversus, Asplenia OMIM:270100
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Malformation of the hepatic du... OMIM:249000
Kid Syndrome
Scaling skin, Postnatal growth retardation, Nail dystrophy, Scarring alopecia of scalp, Sparse ey... ORPHA:477
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Adrenal hypoplasia, Hypoplasia of the thymus, Cutis laxa, Growth delay, Progeroid... OMIM:613177
Arterial Tortuosity Syndrome
Prematurely aged appearance, Redundant skin, Telangiectasia of the skin ORPHA:3342
Scleromyxedema
Generalized abnormality of skin, Aged leonine appearance ORPHA:167635
Cerebrotendinous Xanthomatosis
Hypothyroidism, Prolonged neonatal jaundice, Prematurely aged appearance, Cholelithiasis ORPHA:909
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Male hypogonadism, Hypopigmentation of hair, Primary hypothyro... OMIM:219800
Arterial Tortuosity Syndrome
Cutis laxa, Bruising susceptibility, Telangiectases of the cheeks, Progeroid facial appearance OMIM:208050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Asplenia OMIM:265380
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Unilateral Polymicrogyria
Abnormal posturing, Cyanosis ORPHA:268943
Mandibuloacral Dysplasia Progeroid Syndrome
Postnatal growth retardation, Nail dystrophy, Short stature, Sparse eyebrow, Sparse hair, Progero... OMIM:619127
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Progeroid facial appearance OMIM:614098
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Asplenia ORPHA:261537
Cystic Fibrosis
Male infertility OMIM:219700
Mowat-Wilson Syndrome
Decreased circulating antibody level, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Asplenia ORPHA:261552

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 Mybl1

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 Mybl1.

No publications found that use IMPC mice or data for Mybl1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mybl1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mybl1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mybl1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mybl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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