Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
Immunodeficiency 54 |
|
Chromosome breakage, Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine grow... |
OMIM:609981 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Chromosome breakage |
OMIM:613390 |
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 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Abnormal thumb morphology, Anemia, Growth delay, Neutropenia... |
OMIM:614082 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of chromosome stability, Short stature, Abnormality of n... |
ORPHA:2268 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Short stature, Proximal placement of thumb, Clinodactyly, Anemia |
OMIM:617883 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Metaphyseal dysplasia, Aplastic anemia... |
OMIM:617052 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Anemia, Growth delay, Chromosomal breakage induced... |
OMIM:617244 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Neutropenia, Intrauterine gro... |
OMIM:609053 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Absent thumb, Thrombocytopenia, Chromosomal breakage induced by crosslinking agent... |
OMIM:603467 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Absent thumb, Absent radius, Hydrocephalus, Anemia, Growth delay, Bilateral ... |
OMIM:614083 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... |
OMIM:227650 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Syndactyly, Elevated hemoglobin A1c, Po... |
OMIM:210900 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Absent thumb, Absent radius, Chromosomal breakage induced by crossli... |
OMIM:227646 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Absent thumb, Absent radius, Chromosomal breakage induced by crossli... |
OMIM:227645 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Abnormal testis morphology |
ORPHA:100 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Intrauterine growth retardation, Reduced natural killer cell cou... |
OMIM:620133 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Absent thumb, Hydrocephalus, Patent ductus ... |
OMIM:300514 |
Cartilage-Hair Hypoplasia |
|
Short palm, Metaphyseal dysplasia, Abnormality of chromosome stability, Bowing of the long bones,... |
ORPHA:175 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th finger, Finge... |
ORPHA:84 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Lig4 Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
ORPHA:99812 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Revesz Syndrome |
|
Intrauterine growth retardation, Abnormality of chromosome stability, Aplastic anemia |
OMIM:268130 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Short stature... |
ORPHA:647 |