Human genes for craniolenticulosutural dysplasia
Craniolenticulosutural dysplasia [DOID:0070307]
A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.
Synonyms: craniolenticulosutural dysplasia, craniolenticulosutural dysplasias, DOID:0070307, Boyadjiev-Jabs Syndrome, cranio-lenticulo-sutural dysplasia, CLSD ...