" /> Craniolenticulosutural dysplasia - CISMeF





Preferred Label : Craniolenticulosutural dysplasia;

Symbol : CLSD;

CISMeF acronym : CLSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Boyadjiev-jabs syndrome;

Description : Craniolenticulosutural dysplasia is an autosomal recessive disorder characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the human homolog A of the S. cerevisiae SEC23 gene (SEC23A, 610511.0001);

Prefixed ID : #607812;

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25/07/2025


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