Craniolenticulosutural Dysplasia (CLSD)

Alias:

Boyadjiev-Jabs Syndrome

Cranio-Lenticulo-Sutural Dysplasia

Clsd

Cranio-Lenticulo-Sutural Dysplasia, Clsd

Dysplasia, Craniolenticulosutural (clsd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Craniolenticulosutural Dysplasia, also known as boyadjiev-jabs syndrome, is related to cataract and hypertelorism. An important gene associated with Craniolenticulosutural Dysplasia is SEC23A (SEC23 Homolog A, COPII Coat Complex Component), and among its related pathways/superpathways are Metabolism of proteins and Innate Immune System. Affiliated tissues include eye and bone, and related phenotypes are frontal bossing and scoliosis

Related ID：

MALACARDS：CRN049

OMIM：607812

MESH：C564332