Additional Disease Briefs

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Also known as: Niemann-Pick disease type C, classic form

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

night blindness, congenital stationary, type1i

Nijmegen breakage syndrome

Also known as: AT V1, Berlin breakage syndrome, NBS, NBs, Nijmegen breakage syndrome, Nonsyndromal microcephaly autosomal recessive with normal intelligence, Nonsyndromal microcephaly, autosomal recessive, with normal intelligence, Seemanova syndrome, Seemanova syndrome 2, Seemanova syndrome type 2, ataxia-telangiectasia variant V1, ataxia-telangiectasia variant V2, ataxia-telangiectasia, variant 1, immunodeficiency, microcephaly, and chromosomal instability, immunodeficiency-microcephaly-chromosomal instability syndrome, microcephaly immunodeficiency lymphoreticuloma, microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies, microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies, microcephaly, normal intelligence and immunodeficiency, microcephaly-immunodeficiency-lymphoreticuloma syndrome

Nijmegen breakage syndrome-like disorder

Also known as: NBSLD, NBs-like disorder, Nijmegen breakage syndrome-like disorder, RAD50 deficiency, Rad50 deficiency, microcephaly and chromosomal instability without immunodeficiency, microcephaly and spontaneous chromosome instability without immunodeficiency

NIK deficiency

Also known as: MAP3K14 non-severe combined immunodeficiency, non-severe combined immunodeficiency caused by mutation in MAP3K14, primary immunodeficiency with multifaceted aberrant lymphoid immunity