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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 87
Ruffled acrosome, Male infertility 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
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
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
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular... OMIM:618086
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Young Syndrome
Azoospermia OMIM:279000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Non-Acquired Isolated Growth Hormone Deficiency
Microphallus, Premature skin wrinkling, Prolonged neonatal jaundice, Delayed puberty, Short statu... ORPHA:631
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Sparse facial hair, Short stature, Absent facial hair, Abnor... ORPHA:2183
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Sparse pubic hair, Abnormality of the Leydig cells, Decreased circulating dihy... OMIM:228300
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hepatomegal... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Microphthalmia, Syndromic 8
Cryptorchidism, Premature skin wrinkling OMIM:601349
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ... ORPHA:277
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Non-obstructive az... ORPHA:432
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased testi... ORPHA:280679
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior hairline, Short stature, Bicornuate ... ORPHA:2578
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Nodular regenerative hyperpla... OMIM:301082
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... ORPHA:397596
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Low posterior hairline, Ambiguous genitalia, Short stature, Primary gonadal insuffic... ORPHA:261519
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Reduced social reciprocity, Increased serum testosterone... ORPHA:8
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Transaldolase Deficiency
Telangiectasia, Abnormal clitoris morphology, Premature skin wrinkling ORPHA:101028
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Ring Chromosome 21 Syndrome
Azoospermia, Amenorrhea, Short stature, Infertility, Diabetes insipidus, Cutaneous photosensitivity ORPHA:1445
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... OMIM:209950
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Hemochromatosis, Type 1
Alopecia, Azoospermia, Telangiectasia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atro... OMIM:235200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ... OMIM:300845
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular... OMIM:603909
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp... OMIM:613101
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Low... ORPHA:2617
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Nicolaides-Baraitser Syndrome
Severe short stature, Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorch... ORPHA:3051
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Premature graying of hair, Type II diabetes mellitus, Polycysti... ORPHA:100
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Low posterior hairline, Hypogonadotropic hypogonadism, Short stature, Prematurely... ORPHA:1387
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Growth delay, Pallor OMIM:615234
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... ORPHA:10
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cog5-Cdg
Abnormality of the frontal hairline, Premature skin wrinkling, Intrauterine growth retardation, C... ORPHA:263487
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Short Syndrome
Insulin-resistant diabetes mellitus, Premature skin wrinkling, Intrauterine growth retardation, R... OMIM:269880
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Ring Chromosome 22 Syndrome
Azoospermia, Thick eyebrow, Growth delay, Inappropriate behavior ORPHA:1446
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96263
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Hepatomegaly, Coombs-positive hemolytic anemia, Lymphadenopathy, Thromb... OMIM:614034
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Pallor, Hypothyroidism, Growth delay, Abnormali... ORPHA:300298
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Progeroid facial appearance, Reduced hair sulfur content, Decreased testicular si... OMIM:300953
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Barber-Say Syndrome
Sparse eyebrow, Absent nipple, Hypertrichosis, Premature skin wrinkling, Dry skin, Redundant skin... OMIM:209885
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, Eosinophilia, Mon... OMIM:226990
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Myoclonic-Astatic Epilepsy
Frontal balding, Reduced social reciprocity, Premature skin wrinkling ORPHA:1942
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Hypertrichosis, Postnatal growth retarda... OMIM:210900
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
8P11.2 Deletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Cryptorchidism, Hypogo... ORPHA:251066
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... OMIM:614700
Acrogeria
Skin ulcer, Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Short stature, Premat... ORPHA:2500
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Werner Syndrome
Abnormal hair whorl, Subcutaneous calcification, Skin ulcer, Premature graying of hair, Hypogonad... ORPHA:902
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... OMIM:308750
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Fg Syndrome Type 1
Small pituitary gland, Facial wrinkling, Frontal upsweep of hair, Cryptorchidism, Short stature, ... ORPHA:93932
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Abnormal posturing, Growth delay, Cryptorchidism OMIM:614857
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Premature graying of hair, Excessive wrinkling of palmar skin, Alopecia of ... OMIM:210700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... ORPHA:436159
Nicolaides-Baraitser Syndrome
Dry hair, Periorbital wrinkles, Sparse medial eyebrow, Hypertrichosis, Premature skin wrinkling, ... OMIM:601358
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
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Bone Marrow Failure Syndrome 5
Hypogonadism, Nail dystrophy, Short stature, Testicular atrophy, Growth delay OMIM:618165
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Craniofaciofrontodigital Syndrome
Hypertrichosis, Premature skin wrinkling, Sacral hypertrichosis, Low anterior hairline, Palmoplan... ORPHA:363705
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
H Syndrome
Alopecia, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, Abnormal eyebrow ... ORPHA:168569
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Intrauterine growth retardation, Cryptorchidism, Excessive wrinkled skin, Cutis laxa, ... OMIM:614438
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Progeroid facial appearance, Cryptorchidism, Sparse eyelashes, Cutis laxa, Short ... ORPHA:75496
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Werner Syndrome
Subcutaneous calcification, Progeroid facial appearance, Hypogonadism, Alopecia of scalp, Short s... OMIM:277700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Alg8-Cdg
Intrauterine growth retardation, Cutis laxa, Abnormality of subcutaneous fat tissue, Premature sk... ORPHA:79325
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, He... OMIM:617388
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Postnatal growth retardation, Intrauterine growth retardation, Cutis la... OMIM:616603
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Laron Syndrome
Severe short stature, Abnormality of the endocrine system, Delayed puberty, Hypoplasia of penis, ... ORPHA:633
Keppen-Lubinsky Syndrome
Decreased testicular size, Progeroid facial appearance, Postnatal growth retardation, Premature s... ORPHA:435628
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227990
Fontaine Progeroid Syndrome
Small scrotum, Cryptorchidism, Reduced subcutaneous adipose tissue, Low posterior hairline, Hypop... OMIM:612289
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Gapo Syndrome
Alopecia, Sparse eyebrow, Growth delay, Hypogonadism, Dysmenorrhea, Sparse eyelashes, Amenorrhea,... ORPHA:2067
Classic Galactosemia
Cryptorchidism, Jaundice, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin... ORPHA:79239
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Progeroid facial appearance, Insulin-resistant diabetes mell... ORPHA:2959
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Geroderma Osteodysplasticum
Severe short stature, Progeroid facial appearance, Premature skin wrinkling, Abnormal hair morpho... OMIM:231070
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Neoplasm of the thyroid gland, Excessive wrinkled skin ORPHA:137608
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Cryptorchidism, Prol... OMIM:227650
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Postnatal growth retardation, Intrauterine... ORPHA:2962
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec... OMIM:601495
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine... OMIM:614732
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Absent eyelashes, Hypoplastic labia majora, A... OMIM:200110
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu... OMIM:300972
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Dystonia 31
Abnormal posturing OMIM:619565
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay, Nail dystrophy OMIM:613987
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Type I diabetes mellitus, Progeroid facial appearance, Hypogonadism, Delayed menarche, ... ORPHA:412057
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227982
Bloom Syndrome
Growth delay, Azoospermia, Intrauterine growth retardation, Cutaneous photosensitivity, Sparse ey... ORPHA:125
Opitz-Kaveggia Syndrome
Fine hair, Facial wrinkling, Frontal upsweep of hair, Cryptorchidism, Short stature, Sparse hair,... OMIM:305450
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula... ORPHA:453533
Noonan Syndrome With Multiple Lentigines
Growth delay, Intrauterine growth retardation, Decreased fertility, Cryptorchidism, Excessive wri... ORPHA:500
Cockayne Syndrome Type 2
Intrauterine growth retardation, Male hypogonadism, Cryptorchidism, Progeroid facial appearance ORPHA:90322
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... OMIM:600901
Ehlers-Danlos Syndrome, Classic-Like, 2
Poor wound healing, Bruising susceptibility, Thin eyebrow, Redundant skin, Cryptorchidism, Low po... OMIM:618000
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... ORPHA:699
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody level, Jaun... ORPHA:2137
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Long eyelashes in irreg... ORPHA:2963
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Ablepharon Macrostomia Syndrome
Fine hair, Abnormal female external genitalia morphology, Breast hypoplasia, Dry skin, Redundant ... ORPHA:920
Chromosome Xp11.3 Deletion Syndrome
Short stature, Cryptorchidism, Progeroid facial appearance OMIM:300578
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty... ORPHA:91
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Cockayne Syndrome
Severe short stature, Dry hair, Growth delay, Fine hair, Premature skin wrinkling, Absence of pub... ORPHA:191
Ogden Syndrome
Sparse eyebrow, Fine hair, Facial wrinkling, Decreased testicular size, Long eyelashes, Intrauter... OMIM:300855
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Autosomal Recessive Cutis Laxa Type 2A
Progeroid facial appearance, Postnatal growth retardation, Intrauterine growth retardation, Exces... ORPHA:357058
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane... OMIM:612301
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... OMIM:615934
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Bifid scrotum, Postnatal growth retardation, Intrauterine growth retardation, Abnor... ORPHA:397590
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Cardiofaciocutaneous Syndrome
Fine hair, Dry skin, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Redundant ski... ORPHA:1340
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Distichiasis, Aged leonine appearance, Sparse hair, Absent lower eyelashes OMIM:227260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Wiedemann-Rautenstrauch Syndrome
Sparse eyebrow, Long penis, Alopecia, Premature skin wrinkling, Prominent scalp veins, Intrauteri... OMIM:264090
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Prominent scalp veins, Increased serum estradiol, ... ORPHA:3455
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Prominent veins on trunk, Postnatal growth retardation, Intrauterine growth retardat... ORPHA:357074
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Generalized abnormality of skin, Premature skin wrinkling, Alopecia totalis, ... ORPHA:740
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Wolfram Syndrome 1
Growth delay, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Prematurely aged appearance, Redundant skin, Disti... ORPHA:1807
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Short stature, Intrauterine growth retardation, Progeroid facial appearance ORPHA:50811
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... OMIM:227645
Stuve-Wiedemann Syndrome 1
Short stature, Intrauterine growth retardation, Sparse hair, Premature skin wrinkling OMIM:601559
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Short stature, Cutaneous photosensitivity, Progeroid facial appearance OMIM:610651
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... ORPHA:29073
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Intrauterine growth retardation, Redundant skin, Excessive wrinkled skin, Cutis laxa... OMIM:219200
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con... ORPHA:449432
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Portal hypertension, Spl... OMIM:613385
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... ORPHA:96179
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Wrinkly Skin Syndrome
Short nail, Progeroid facial appearance, Intrauterine growth retardation, Redundant skin, Cryptor... OMIM:278250
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased... ORPHA:3464
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Petechiae, Oligozoospermia, Abnormal testis morphology, Primary testicular failure,... ORPHA:85450
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Intrauterine growth retardation, Sparse axillary hair, Sparse facial... OMIM:608154
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Intrauterine growth retardation,... ORPHA:3322
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Abse... ORPHA:363618
Cutis Laxa, Autosomal Recessive, Type Iib
Bruising susceptibility, Intrauterine growth retardation, Redundant skin, Excessive wrinkled skin... OMIM:612940
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Acquired Partial Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79087
Cockayne Syndrome A
Irregular menstruation, Dry hair, Progeroid facial appearance, Hypogonadism, Dry skin, Intrauteri... OMIM:216400
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Growth delay, Abnormality of the uterus, Hypogona... ORPHA:84
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Cryptorchidism, Prol... OMIM:227646
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Cockayne Syndrome Type 1
Male hypogonadism, Progeroid facial appearance, Postnatal growth retardation, Cryptorchidism, Cut... ORPHA:90321
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Atypical Werner Syndrome
Subcutaneous calcification, Insulin-resistant diabetes mellitus, Premature graying of hair, Abnor... ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Progeroid facial appearance, Breast aplasia, Abnormal eyebrow morphology, Lack of skin ... ORPHA:90153
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry skin, Sparse e... OMIM:614941
Arthrogryposis Multiplex Congenita 5
Intrauterine growth retardation, Growth delay, Premature skin wrinkling OMIM:618947
Trichothiodystrophy
Gonadal dysgenesis, Dry skin, Tiger tail banding, Intrauterine growth retardation, Alopecia of sc... ORPHA:33364
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... OMIM:615816
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased circulating antibody level... ORPHA:293978
Xfe Progeroid Syndrome
Severe short stature, Dry skin, Premature ovarian insufficiency, Prematurely aged appearance, Cut... OMIM:610965
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Hepatomegal... ORPHA:79330
Autosomal Dominant Cutis Laxa
Premature skin wrinkling, Postnatal growth retardation, Intrauterine growth retardation, Redundan... ORPHA:90348
Short Syndrome
Severe short stature, Alopecia, Excessive wrinkled skin, Sparse hair, Diabetes mellitus ORPHA:3163
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... OMIM:619381
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Progeroid facial appearance, Premature graying of hair, Reduced subc... ORPHA:280365
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ... ORPHA:331235
Thanatophoric Dysplasia Type 1
Redundant skin, Patent ductus arteriosus, Lethal short-limbed short stature, Excessive wrinkled skin ORPHA:1860
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia OMIM:307200
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Postnatal grow... ORPHA:2834
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypogonadism, External genital hypoplasia, Redun... ORPHA:2658
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Cockayne Syndrome B