Fanconi anemia, complementation group W
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Parinda A Mehta
- Christen Ebens
- view full author information
Available tests
Clinical tests (13 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Megakaryocyte dysplasia
Megakaryocyte dysplasia
- MedGen UID: 1611304
- Concept ID: C4540467
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Megakaryocyte dysplasia
- Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Midface retrusion
- Abnormality of limbs
- Abnormal radial ray morphology
Abnormal radial ray morphology
- MedGen UID: 895524
- Concept ID: C4228778
- Finding: Anatomical Abnormality
Abnormality of limbs
- Absent thumb
Absent thumb
- MedGen UID: 480441
- Concept ID: C3278811
- Finding: Finding
Abnormality of limbs
- Hypoplasia of the radius
Hypoplasia of the radius
- MedGen UID: 672334
- Concept ID: C0685381
- Finding: Congenital Abnormality
Abnormality of limbs
- Abnormal radial ray morphology
- Abnormality of the digestive system
- Duodenal atresia
Duodenal atresia
- MedGen UID: 75602
- Concept ID: C0266174
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Duodenal atresia
- Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
- Abnormality of the genitourinary system
- Renal hypoplasia
Renal hypoplasia
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal hypoplasia
- Abnormality of the immune system
- Polysplenia
Polysplenia
- MedGen UID: 383959
- Concept ID: C1856659
- Finding: Congenital Abnormality
Abnormality of the immune system
- Polysplenia
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Abnormal periventricular white matter morphology
Abnormal periventricular white matter morphology
- MedGen UID: 435926
- Concept ID: C2673431
- Finding: Finding
Abnormality of the nervous system
- Chiari malformation
Chiari malformation
- MedGen UID: 2065
- Concept ID: C0003803
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Abnormal periventricular white matter morphology
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
- Neoplasm
- Myelodysplasia
Myelodysplasia
- MedGen UID: 10231
- Concept ID: C0026985
- Finding: Congenital Abnormality
Neoplasm
- Myelodysplasia
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