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  2. Cranio-lenticulo-sutural dysplasia

Cranio-lenticulo-sutural dysplasia

Definition:

Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.

Biomedical Dictionary

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