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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
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
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Available tests

149 tests are in the database for this condition.

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Clinical tests (149 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AT-V1, AT-V2, ATV, NBS, NBS1, P95, NBN
    Summary: nibrin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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