Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group J |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Fanconi Anemia, Complementation Group U |
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Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability |
OMIM:600546 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:227650 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Prolonged G2... |
OMIM:227646 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:227645 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage |
OMIM:617052 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability |
ORPHA:100 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Fanconi Anemia, Complementation Group P |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Patent ductus arteriosus |
OMIM:300514 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Icf Syndrome |
|
Abnormality of chromosome stability |
ORPHA:2268 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability |
ORPHA:175 |
Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Patent ductus arteriosus |
ORPHA:84 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability |
ORPHA:647 |
Cornelia De Lange Syndrome |
|
|
ORPHA:199 |
Semilobar Holoprosencephaly |
|
|
ORPHA:220386 |
Atypical Rett Syndrome |
|
|
ORPHA:3095 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
|
OMIM:301044 |
Cornelia De Lange Syndrome 2 |
|
|
OMIM:300590 |