"VSports app下载" Microcephaly, normal intelligence and immunodeficiency
- Synonyms
- Ataxia telangiectasia variant V1; BERLIN BREAKAGE SYNDROME; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; Immunodeficiency, microcephaly with normal intelligence; Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies; Nijmegen breakage syndrome; Nonsyndromal microcephaly autosomal recessive with normal intelligence; SEEMANOVA SYNDROME II; Seemanova syndrome 2
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Other reported malignancies include solid tumors (e.g., medulloblastoma, glioma, rhabdomyosarcoma).
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Raymonda Varon
- Ilja Demuth
- Krystyna H Chrzanowska
- view full author information
Available tests (VSports app下载)
117 tests are in the database for this condition.
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Clinical tests (117 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- "V体育安卓版" Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system (VSports在线直播)
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality
- Neoplasm
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