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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease night blindness
Comorbidity C0028738|nystagmus
Sentences 2
PubMedID- 20213496 Typical symptoms in csnb2 are moderately low visual acuity, myopia, nystagmus, and variable levels of night blindness, but one or more of these symptoms may be absent [6].
PubMedID- 24051672 The affected family members were described to show an unusually severe csnb2 phenotype—usually comprising low visual acuity, myopia, nystagmus, and variable levels of night blindness (clinically diagnosed by a reduction in the erg b-wave)—which was associated with intellectual disability in males.

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