OBO ID: DOID:0070307
Term Name: craniolenticulosutural dysplasia Search Ontology:
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)
OTHER craniolenticulosutural dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SEC23A Craniolenticulosutural dysplasia 607812
ZEBRAFISH MODELS
Fish Conditions Citations
sec23am299/m299 (AB) standard conditions Cox et al., 2017
PHENOTYPE No data available

CITATIONS (1)