Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
X-ray repair complementing defective repair in Chinese hamster cells 6
Synonyms:
Ku70,  Ku p70,  G22p1

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 Xrcc6 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 Xrcc6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... OMIM:618987
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cernunnos-Xlf Deficiency
B lymphocytopenia, Growth delay, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Immunodeficiency 8
Lymphopenia OMIM:615401
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 84
B lymphocytopenia, B-cell lymphoma, Perianal abscess, Splenomegaly OMIM:619437
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Verrucae, De... OMIM:618969
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Failure to thrive... OMIM:300400
Caspase 8 Deficiency
Short stature, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG leve... OMIM:607271
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency 76
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Lymphopenia, T l... OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhyp... OMIM:601457
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Failure to thrive, Absence of lymph node germinal cen... ORPHA:277
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI OMIM:614173
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Growth delay, Decreased circulating IgA level, Decreased circulatin... OMIM:619510
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cortical dysplasia, Simplified gy... OMIM:615763
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Short stature OMIM:610798
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Decreased circulating antibody level, Reduced natural kille... OMIM:618108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Failure to thrive, Decreased circulating IgA level, Reduced red cell adenosine... OMIM:102700
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Hypoplasia of the brainstem, Agyria, Abnormal cerebral ... OMIM:607432
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... OMIM:153600
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Anal canal squamous carcinoma, Verrucae, Increased circulating IgE level, Squa... ORPHA:217390
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cortical dysplasia, Polymicrogyria, Microcephaly OMIM:615771
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Agammaglobulinemia, Neutropenia, Failure to thrive, Decreased circulating anti... OMIM:601495
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased circulating IgA level, Decreased circulating ... ORPHA:331206
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... ORPHA:300573
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Failure to t... OMIM:618534
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... OMIM:614039
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral white matter hypoplasia, Lissencephaly, Pachygyria, Hypoplasia of the brainstem, Polymic... OMIM:618730
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulating antibody l... OMIM:618261
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Neutropenia, Decreased circulating IgG level, Severe short statu... ORPHA:2643
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Failure to thrive,... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Intermittent th... OMIM:150550
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Neutropenia, Decreased circulating IgG level, Severe short statu... OMIM:251190
Lissencephaly 3
Pachygyria, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Agyri... OMIM:611603
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia OMIM:602450
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Growth delay, Failure to thrive, Decreased... OMIM:615767
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Decreased circ... OMIM:616100
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Neutropenia OMIM:613501
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Hodgkin lymphoma, Decreased CD69 upregulation upon TCR activation, L... OMIM:300853
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Lymphadenopathy, Splenome... OMIM:608971
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... OMIM:617241
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgA leve... OMIM:606367
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormality of the b... ORPHA:99852
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Primary Intestinal Lymphangiectasia
Growth delay, Decreased circulating IgA level, Weight loss, Decreased circulating antibody level,... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Failure to thrive, Abnormal lymphocyte morphology, Decreased ci... ORPHA:293978
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Burkitt lymphoma, Decreased circulating antibody level, Reduced nat... OMIM:308240
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... OMIM:601859
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increased circulating ... ORPHA:100024
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormal brainstem morphology, Abnorm... ORPHA:255182
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Failure to thrive, Decreased circulating IgA level, Decreased cir... OMIM:275350
Immunodeficiency 36
Chronic lymphatic leukemia, Growth delay, Short stature, Decreased circulating antibody level, Sp... OMIM:616005
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebral atrophy OMIM:616192
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Increased circulating IgA level, Lymphadenopathy, Decreased lymph... ORPHA:169154
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... OMIM:619220
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex morphology ORPHA:411493
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... OMIM:613179
Bone Marrow Failure Syndrome 4
Short stature, Leukopenia, Rhizomelia, Decreased circulating antibody level, Anemia, Bone marrow ... OMIM:618116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Cutaneous anergy, ... OMIM:600802
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hypoplasia of the brainstem, Abnormal cerebral white matter morphology, Gray matter het... ORPHA:352682
Reticular Dysgenesis
Leukopenia, Failure to thrive, Weight loss, Decreased circulating antibody level, Anemia, Abnorma... ORPHA:33355
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circulating antibody ... OMIM:615285
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Patent duct... OMIM:612541
Bloom Syndrome
Intrauterine growth retardation, Small for gestational age, Leukemia, Decreased circulating IgA l... OMIM:210900
Whim Syndrome 1
Verrucae, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Mediastinal lympha... OMIM:615559
Bloom Syndrome
Neoplasm of the skin, Acute lymphoblastic leukemia, Decreased circulating antibody level, Prematu... ORPHA:125
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating antibody level, Growth delay, Short stature OMIM:617744
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Selective Igm Deficiency
Thyroid carcinoma, Decreased specific antibody response to vaccination, Stomach cancer, Multiple ... ORPHA:331235
Macrocephaly/Autism Syndrome
Obesity, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Small basal ganglia, Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia ORPHA:263410
Immunodeficiency 46
Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Intermittent thromb... OMIM:616740
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, Hypoplasia of t... OMIM:619072
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Progressive microcephaly, Hypoplasia of the corpus ... OMIM:617862
Nijmegen Breakage Syndrome
B lymphocytopenia, Intrauterine growth retardation, Rhabdomyosarcoma, Short stature, Lymphoma, Dy... OMIM:251260
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Decreased circula... OMIM:616084
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Weight loss, Anemi... OMIM:209950
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Decreased circulating antibody level, Anemia, Pure red cell ap... OMIM:618165
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Decreased lymphocyte apoptosis,... OMIM:614470
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Mirage Syndrome
Adrenal insufficiency, Leukopenia, Anemia, Patent ductus arteriosus, Lymphopenia, Hypergonadotrop... OMIM:617053
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o... ORPHA:250972
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Ataxia-Telangiectasia
Short stature, Failure to thrive, Polycystic ovaries, Decreased circulating antibody level, Neopl... ORPHA:100
Lissencephaly 5
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the brainstem, Hypoplasia of the... OMIM:615191
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Mi... OMIM:617542
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, Leukopenia, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulatin... OMIM:613011
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Failure to thrive secondary to recurrent infections, Decreased c... ORPHA:169160
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Myelodysplasia, Leukopenia, Short stature, Bone marrow hypocellul... ORPHA:508542
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia OMIM:243150
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Absent circulating B cells, Panhypogammaglobulinemia, Decreased response to growth... OMIM:307200
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Schnitzler Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Increased circulating IgM level ORPHA:37748
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Alpha-Heavy Chain Disease
Growth delay, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Dysgammaglobulinemia, Premature ov... ORPHA:100025
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Capillary hemangioma, Decr... ORPHA:508533
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Kimura Disease
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia ORPHA:482
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level, Short stature, Small for gestational... OMIM:215250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Failure to thrive, Decreased circulating IgA level, Reduced natural killer cell co... OMIM:242860
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulating antibody l... OMIM:615122
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Cho... ORPHA:83617
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency 47
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... OMIM:300972
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... OMIM:614034
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Failure to thrive, Decreased circulating IgA level, Impaired memory B cell generatio... OMIM:308230
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Leukopenia, Decreased circulating antibody level, Bone marrow hy... OMIM:615190
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Verrucae, Decreased circulating IgG level, Failure to thrive, De... ORPHA:275
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Abnormal spermatogenesis, Decreased proportion of CD4-positiv... OMIM:208900
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Alg12-Cdg
B lymphocytopenia, Intrauterine growth retardation, Partial absence of specific antibody response... ORPHA:79324
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Lymph node hypoplasia OMIM:300755
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Lymphoma, B-cell lymphoma,... ORPHA:90363
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Growth delay, Short stature, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating... OMIM:240500
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Icf Syndrome
Short stature, Decreased circulating antibody level, Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Absence of lymph node germinal center, Anemia, Abnormal serum inter... ORPHA:79124
Roifman Syndrome
Intrauterine growth retardation, Short stature, Lymphadenopathy, Decreased circulating antibody l... ORPHA:353298
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Cryptorchidism, Jaundice OMIM:214110
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Abnormal lymphocyte pro... ORPHA:99867
Maternal Uniparental Disomy Of Chromosome 1
Growth delay, Short stature, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Hypoplasia of the pons, Abnormal... ORPHA:370959
Immunodeficiency 61
Obesity, Agammaglobulinemia, Colon cancer OMIM:300310
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Developmental And Epileptic Encephalopathy 5
Atrophy/Degeneration affecting the brainstem, Progressive microcephaly, Cerebral atrophy, Hypopla... OMIM:613477
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Griscelli Syndrome
Leukopenia, Short stature, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hyp... ORPHA:381
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy, ... ORPHA:77299
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Decreased specific pneumococcal antibody level, Chronic decreased ci... OMIM:613496
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the... ORPHA:84064
Pgm3-Cdg
Neutropenia, Short stature, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... ORPHA:443811
Osteopetrosis, Autosomal Recessive 7
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... OMIM:612301
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology, Polymicrogyria, Agyria, Hypoplasia of th... ORPHA:370997
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Common Variable Immunodeficiency
Failure to thrive in infancy, Gastrointestinal stroma tumor, Lymphadenopathy, Decreased circulati... ORPHA:1572
Achondroplasia
Brain stem compression, Megalencephaly OMIM:100800
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Abnormal brainstem morphology, Cerebral edema, Abnormal brainstem MR... ORPHA:88619
Pearson Syndrome
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Neutropenia, Macronodular cirrhosis, Dec... ORPHA:699
Immunodeficiency 23
Neutropenia, Hodgkin lymphoma, Failure to thrive, Abscess, Increased circulating IgG level, Incre... OMIM:615816
X-Linked Agammaglobulinemia
Agammaglobulinemia, Neutropenia, Short stature, Recurrent cutaneous abscess formation, Failure to... ORPHA:47
Cowden Syndrome 1
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Decreased circulating ... OMIM:158350
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hodgkin lymphoma, Short stature, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:615952
Hereditary Folate Malabsorption
Failure to thrive, Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thro... ORPHA:90045
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Popov-Chang syndrome
Failure to thrive, Decreased circulating antibody level, Lymphopenia, Short stature OMIM:618428
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased response to growth hormone stimulation test, Decreased... OMIM:615577
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Anencephaly OMIM:614120
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis OMIM:615415
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Increased circ... OMIM:608106
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... OMIM:269200
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Growth delay OMIM:614069
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Adrenal insufficiency, Decreased circulating aldosterone level, Hypopar... OMIM:240300
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Macrocytic anemia, Anterior pituitary dysgenesis, Leukopenia, Apla... ORPHA:227982
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:617761
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Autoimmune thrombocyt... ORPHA:227990
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Decreased proportion of class-switched memory B cells, Comp... OMIM:233600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Joubert Syndrome 7
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia, Abnormal corpus callos... OMIM:611560
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells OMIM:615758
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM, Elevated circulating follicle s... OMIM:602668
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Autosomal Agammaglobulinemia
Failure to thrive, Verrucae, Agammaglobulinemia, Neutropenia ORPHA:33110
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Decreased circul... ORPHA:183675
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Neutropenia, Failure to thrive, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus, R... ORPHA:436252
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Lymphadeno... ORPHA:540
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Netherton Syndrome
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Hypereosinop... OMIM:256500
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Thrombocytope... ORPHA:169105
Gangliocytoma
Abnormal prolactin level, Abnormality of the pituitary gland, Abnormal brainstem morphology, Pitu... ORPHA:251937
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Immunodeficiency 15B
Failure to thrive, Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Decreased circulating antibody level, Intrauterine growth retardation, Agammaglob... OMIM:616910
Congenital Disorder Of Glycosylation, Type Iii
Atrophy/Degeneration affecting the brainstem, Microcephaly, Cerebral atrophy OMIM:613612
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Short stature, Patent ductus arteriosus, Abnormal B cell morphology, Decrease... OMIM:618223
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Decreased circulating IgG level, Neutropenia OMIM:608809
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Abnormal cerebral cortex morphology ORPHA:163961
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... ORPHA:911
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic nipples, Failure to thriv... ORPHA:79329
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Hypoplasia of the corpus callosum, Leukoencephalopathy, Abnormal brainstem MRI signal intensity, ... ORPHA:83629
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Whim Syndrome
Cutaneous melanoma, Neutropenia, Cervix cancer, Lymphadenitis, Verrucae, Decreased circulating an... ORPHA:51636
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Aplasia... ORPHA:83471
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Multiple myeloma, Monoclonal immunoglobulin M proteinemia, Weight los... ORPHA:91139
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Vici Syndrome
Growth delay, Failure to thrive, Cutaneous anergy, Decreased circulating IgG level, Decreased pro... OMIM:242840
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Encephalomalacia ORPHA:231160
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Rhizomelia, Large for gestational age, Thrombocytopenia, Cryptor... OMIM:616638
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Patent ductus arteriosus, Splenomeg... OMIM:617303
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Lambert Syndrome
Failure to thrive in infancy, Decreased circulating antibody level, Intrauterine growth retardation ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Growth delay, Impaired T cell function, Failure to thrive, Paten... OMIM:614576
Progeria-Short Stature-Pigmented Nevi Syndrome
Short stature, Small for gestational age, Neoplasm of the pancreas, Neoplasm, Microcytic anemia, ... ORPHA:2959
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebral white matter atrophy, Atrophy/Degeneration affecting the b... ORPHA:356961
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Decreased circulating IgA level, Patent ductus arteriosus, Decreased circulat... ORPHA:369837
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of the thymus, Patent ductus arteriosus, Abnormality of the adrena... ORPHA:861
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:51188
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Growth delay, Splenomegaly OMIM:248500
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... OMIM:617062
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle ORPHA:370022
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Abdominal situs inversus, Asplenia OMIM:619123
Riddle Syndrome
Short stature, Decreased circulating IgA level, Weight loss, Decreased circulating IgG level, Gen... ORPHA:420741
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Eec Syndrome
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Anterior hypopit... ORPHA:1896
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Lymphoproliferative disorder, Lymphadenopathy, Decrease... OMIM:615688
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Growth delay OMIM:226300
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia OMIM:617746
Leigh Syndrome With Cardiomyopathy
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal cerebral cortex morp... ORPHA:70474
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Short stature, Decreased ... ORPHA:3132
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, ... OMIM:617822
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Patent ductus arteriosus, Asplenia, Annular pancreas ORPHA:210122
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypoplasia of the thymus, Abnormality of the tonsils, Cholelithiasis, Patent ... ORPHA:567
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity, Abnormal bra... ORPHA:444013
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Short stature, Iron deficiency anemia, Failure to thrive, Weig... OMIM:212750
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Polymicrogyria, Br... ORPHA:1136
Immunodeficiency 58
Decreased specific antibody response to vaccination, Short stature, Recurrent cutaneous abscess f... OMIM:618131
Feingold Syndrome 1
Asplenia, Annular pancreas, Patent ductus arteriosus, Accessory spleen, Polysplenia OMIM:164280
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal corpus callosum morp... ORPHA:206448
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology ORPHA:79279
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level, Intrauterine growth retardation ORPHA:448237
Multiple Myeloma
Increased circulating IgA level, Lymphadenopathy, Weight loss, Decreased circulating antibody lev... ORPHA:29073
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Lymphoproliferative disorder, Cryoglobulinemia, Decreased serum co... ORPHA:289390
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Short stature, Decreased circulating IgA level, Splenomegaly, Hyper... OMIM:613385
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Microgastria-Limb Reduction Defects Association
Asplenia, Splenogonadal fusion, Absent gallbladder, Cryptorchidism, Biliary tract abnormality OMIM:156810
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Rhizomelia, Decreased circulating antibody level, P... OMIM:607143
Brucellosis
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Small for gestational age, Failure to thr... ORPHA:1304
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Patent ductus arteriosus ORPHA:99811
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Short stature, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocy... OMIM:607944
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Asplenia, Patent ductus arteriosus, Biliary atresia, Polysplenia OMIM:306955
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Patent ductus a... ORPHA:505248
Ring Chromosome 21 Syndrome
Decreased circulating antibody level, Short stature ORPHA:1445
Hennekam Syndrome
Mild postnatal growth retardation, Lymphadenopathy, Lymphangioma, Decreased circulating antibody ... ORPHA:2136
Mosaic Trisomy 9
Abnormal liver lobulation, Cryptorchidism, Asplenia, Patent ductus arteriosus ORPHA:99776
Dubowitz Syndrome
Neuroblastoma, Acute lymphoblastic leukemia, Intrauterine growth retardation, Decreased circulati... OMIM:223370
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Hypoplasia of the corpus callosum, Abnormal brainstem MRI... ORPHA:254930
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Abnormality of the diencephalon ORPHA:2720
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia ORPHA:96123
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:212065
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus, Patent ductus arteriosus ORPHA:3384
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Pancreatic cysts, Short stature, Decreased circulating antibody level, Anemia, Hepa... OMIM:274000
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:68
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Growth delay, Failure to thrive, Decreased circulating antibody level, Anemia, Squamous cell carc... ORPHA:79396
Joubert Syndrome 2
Brainstem dysplasia, Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle,... OMIM:608091
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal thala... ORPHA:83597
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level DECIPHER:45
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Trichothiodystrophy
Neutropenia, Intrauterine growth retardation, Anemia, Impaired social reciprocity, Panhypogammagl... ORPHA:33364
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Abnormal isohemagglutinin level, Intrauterine growth retardation, Short stature, Sm... ORPHA:99843
47,Xyy Syndrome
Abnormal brainstem morphology, Increased circulating gonadotropin level ORPHA:8
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Apla... OMIM:300291
Gaisböck Syndrome
Obesity, Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Ove... ORPHA:90041
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormality of the pituitary glan... ORPHA:314621
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level, Intrauterine growth retardation, Short stature OMIM:300953
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, Patent ductus arteri... OMIM:249000
Alopecia Antibody Deficiency
Decreased circulating antibody level, Short stature ORPHA:1006
Thymic Tumor
Neuroendocrine neoplasm, Dysgammaglobulinemia, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:100100
Lysinuric Protein Intolerance
Leukopenia, Failure to thrive, Decreased circulating antibody level, Anemia, Complement deficienc... ORPHA:470
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Increased circulating IgA level, Lymphadenopathy, Weight loss... ORPHA:79078
Cartilage-Hair Hypoplasia
Neutropenia, Failure to thrive, Rhizomelia, Decreased circulating antibody level, Anemia, Disprop... ORPHA:175
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal pons morphology, Abnormal cerebral morphology, Abnormal ca... ORPHA:79139
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Posterior pituitary hypoplasia, Patent ductus arteriosus, Abno... ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Pachygyria, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Agyri... OMIM:236670
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Molar tooth sign on... OMIM:619476
Leigh Syndrome
Focal T2 hyperintense brainstem lesion, Neuronal loss in basal ganglia, Focal T2 hyperintense bas... ORPHA:506
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgM level, Abnormality of the ductus choledochus, Increased circ... ORPHA:562639
Meckel Syndrome
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Cryptorchidism, Cystic... ORPHA:564
Rift Valley Fever
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level ORPHA:319251
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Hemangioma, Decreased circulating IgA level, Large for gestational age, Cryptor... ORPHA:457485
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Splenomegaly OMIM:613327
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Disproportionate short-limb short stature, Decreased circulating IgG level, Neutropenia OMIM:271510
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Short stature ORPHA:1951
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Short stature ORPHA:634
Tetraamelia Syndrome 1
Adrenal gland agenesis, Asplenia OMIM:273395
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abscess, Increased circu... ORPHA:228123
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Short stature ORPHA:1493
Joubert Syndrome 1
Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cer... OMIM:213300
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Splenomegaly, Parotit... ORPHA:99827
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Periventricula... ORPHA:444072
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Decreased circulating IgG level, Basal cell carcinoma, ... OMIM:601675
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Cerebral cortical atrophy ORPHA:93256
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Pachygyria, Cerebral edema, Abnormal brainstem MRI signal intensity, Lis... ORPHA:258
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... ORPHA:99829
Immunodeficiency 56
Failure to thrive, Panhypogammaglobulinemia OMIM:615207
Meningioma
Enlarged pituitary gland, Hypothalamic hypothyroidism, Pituitary hypothyroidism, Focal T2 hypoint... ORPHA:2495
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Intrauterine growth retardation, Decreased circulating antibody lev... ORPHA:247598
Pseudoaminopterin Syndrome
Cryptorchidism, Asplenia ORPHA:221120
Arima Syndrome
Gray matter heterotopia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:243910
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Cholelith... ORPHA:171
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Monosomy 18Q
Astrocytoma, Growth delay, Short stature, Failure to thrive, Decreased circulating IgA level, Sle... ORPHA:1600
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level OMIM:606056
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Abdominal situs inversus, Asplenia, Patent ductus arteriosus OMIM:270100
X-Linked Cerebral Adrenoleukodystrophy
Abnormal periventricular white matter morphology, Abnormality of the brainstem white matter ORPHA:139396
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Semilobar Holoprosencephaly
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... ORPHA:220386
Alobar Holoprosencephaly
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... ORPHA:93926
Lobar Holoprosencephaly
Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, Abnormal brainstem morpho... ORPHA:93924
Sponastrime Dysplasia
Intrauterine growth retardation, Neutropenia, Small for gestational age, Rhizomelia, Decreased ci... ORPHA:93357
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary lymphangiectasia, Patent ductus arteriosus, Asplenia, Annular pancreas OMIM:265380
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Lassa Fever
Increased circulating IgM level ORPHA:99824
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus,... ORPHA:744
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level, Hepatocellular carcinoma ORPHA:186
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Gonadotropin deficiency, Adrenocorticotropic hormone deficiency, Ce... ORPHA:293987
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Decreased circulating antibody level OMIM:618183
Viss Syndrome
Short stature, Failure to thrive, Decreased circulating IgA level, Exostosis of the external audi... OMIM:619472
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Arnold-Chiari Malformation Type I
Brain stem compression ORPHA:268882
Mowat-Wilson Syndrome
Oligomenorrhea, Asplenia, Chordee, Patent ductus arteriosus, Cryptorchidism, Hydrocele testis ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Cryptorchidism, Asplenia, Hydrocele testis ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Chordee, Patent ductus arteriosus, Cryptorchidism, Hydrocele testis ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Failure to thrive in infancy, Intrauterine growth r... ORPHA:500150
Listeriosis
Abnormal brainstem MRI signal intensity ORPHA:533
Neurofibromatosis Type 2
Brain stem compression ORPHA:637
Osteogenesis Imperfecta
Brain stem compression ORPHA:666

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 Xrcc6

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 Xrcc6.

No publications found that use IMPC mice or data for Xrcc6.

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MGI Allele Allele Type Produced
Xrcc6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Xrcc6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Xrcc6tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Xrcc6tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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