| Disease Aliases (44) | At v1 At-v1 At-v2 Ataxia-telangiectasia variant v1 Ataxia-telangiectasia variant v2 Ataxia telangiectasia variant 1 Ataxia telangiectasia variant v1 Ataxia-telangiectasia variant 1 Ataxia-telangiectasia variant 1s Ataxia-telangiectasia variant v1s Ataxia-telangiectasia Ataxia-telangiectasia, variant 1 Bbs Berlin breakage syndrome Breakage syndrome, berlin Breakage syndrome, nijmegen Immunodeficiency, microcephaly, and chromosomal instability Immunodeficiency - microcephaly - chromosomal instability Immunodeficiency, microcephaly with normal intelligence Immunodeficiency-microcephaly-chromosomal instability syndrome Microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Microcephaly - immunodeficiency - lymphoreticuloma Microcephaly immunodeficiency lymphoreticuloma Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies Microcephaly, normal intelligence and immunodeficiency Microcephaly-immunodeficiency-lymphoid malignancy syndrome Nbs Nbs - nijmegen breakage syndrome Nonsyndromal microcephaly, autosomal recessive, with normal intelligence Nijmegen breakage syndrome Nijmegen breakage syndrome; nbs Nonsyndromal microcephaly autosomal recessive with normal intelligence Seemanova syndrome ii Seemanova syndrome 2 Seemanova syndrome Seemanova syndrome type 2 Syndrome, berlin breakage Syndrome, nijmegen breakage Variant 1s, ataxia-telangiectasia Variant v1, ataxia-telangiectasia Variant v1s, ataxia-telangiectasia Ataxia-telangiectasia variant Microcephaly-immunodeficiency-lymphoreticuloma syndrome Variant 1 |
Associated Genes (1) NCBI-RefSeq: NBN (Nibrin) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Microcephaly, normal intelligence and immunodeficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |