Search Ontology:
Human Disease

craniolenticulosutural dysplasia

Term ID
DOID:0070307
Synonyms
  • Boyadjiev-Jabs Syndrome
  • cranio-lenticulo-sutural dysplasia, CLSD
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0070307 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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