Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Fanconi Anemia, Complementation Group J |
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Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Fanconi Anemia, Complementation Group T |
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Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... |
OMIM:616435 |
Immunodeficiency 54 |
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Chromosome breakage, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:609981 |
Fanconi Anemia, Complementation Group V |
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Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularit... |
OMIM:617243 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Fanconi Anemia, Complementation Group D1 |
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Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... |
OMIM:605724 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Fanconi Anemia, Complementation Group G |
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Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia |
OMIM:310465 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Transcobalamin Deficiency |
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Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Anemia |
OMIM:617883 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
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Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... |
OMIM:617052 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Ataxia-Telangiectasia |
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Abnormality of chromosome stability, Lymphopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Neutropenia |
OMIM:609053 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... |
OMIM:600901 |
Fanconi Anemia, Complementation Group P |
|
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... |
OMIM:227650 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... |
OMIM:227645 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Leukemia, Hepa... |
OMIM:210900 |
Fanconi Anemia, Complementation Group L |
|
Anemia, Chromosome breakage, Bone marrow hypocellularity, Chromosomal breakage induced by crossli... |
OMIM:614083 |
Fanconi Anemia, Complementation Group F |
|
Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Leukopenia, Bone marrow hy... |
OMIM:603467 |
Lig4 Syndrome |
|
Hepatomegaly, Abnormality of chromosome stability, Pancytopenia, Leukocytosis, Lymphadenopathy, A... |
ORPHA:99812 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Leukemia,... |
OMIM:227646 |
Icf Syndrome |
|
Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Mirage Syndrome |
|
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability, Abnormality of the pancreas, Neutropenia, Anemia |
ORPHA:175 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Acute leukemi... |
ORPHA:647 |
Pearson Syndrome |
|
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Anemia, Leukopen... |
ORPHA:84 |