Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
ataxia – oculomotor apraxia type 4

Also known as: AOA4, PNKP oculomotor apraxia or related oculomotor disease, ataxia - oculomotor apraxia type 4, ataxia-oculomotor apraxia 4, ataxia-oculomotor apraxia-4, oculomotor apraxia or related oculomotor disease caused by mutation in PNKP

ataxia-hypogonadism-choroidal dystrophy syndrome

Also known as: BNHS, Boucher-Neuhauser syndrome, Boucher-Neuhchäuser syndrome, Boucher-Neuhäuser syndrome, ataxia - hypogonadism - choroidal dystrophy, chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

ataxia-telangiectasia-like disorder

Also known as: ATLD, ATLD1, ataxia - telangiectasia-like disorder, ataxia-telangiectasia-like disorder 1, ataxia-telangiectasia-like disorder type 1

ataxia-telangiectasia-like disorder 1

Also known as: ATLD1, Atld, MRE11 ataxia - telangiectasia-like disorder, MRE11 ataxia-telangiectasia-like disorder, ataxia - telangiectasia-like disorder caused by mutation in MRE11, ataxia-telangiectasia-like disorder 1, ataxia-telangiectasia-like disorder caused by mutation in MRE11

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