" /> Achromatopsia 4 - CISMeF





Preferred Label : Achromatopsia 4;

Symbol : ACHM4;

CISMeF acronym : ACHM4;

Type : Phenotype, molecular basis known;

Description : Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002). For a general description and a discussion of genetic heterogeneity of achromatopsia, see 216900.;

Prefixed ID : #613856;

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30/07/2025


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