" /> Ocular motor apraxia - CISMeF





Preferred Label : Ocular motor apraxia;

CISMeF acronym : COMA;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Oculomotor apraxia, cogan type; Saccade initiation failure, congenital; COMA;

Description : Congenital oculomotor apraxia, first reported by Cogan (1952), is characterized by (1) defective or absent horizontal voluntary eye movements, and (2) defective or absent horizontal ocular attraction movements. Oculomotor apraxia occurs in ataxia-telangiectasia (208900). Also see ataxia-oculomotor apraxia syndrome (208920; 606002). Oculomotor apraxia has been observed in the neuronopathic form of Gaucher disease (type III; 231000) (Erikson and Wahlberg, 1985; Gross-Tsur et al., 1989).;

Inheritance : Autosomal recessive;

Prefixed ID : %257550;

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30/04/2025


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