OBO ID: DOID:0080575
Term Name: Larsen-like syndrome B3GAT3 type Search Ontology:
Synonyms:
  • Larsen-like syndrome, B3GAT3 type
  • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Definition: A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (2)
References:
Ontology: Human Disease   (DOID:0080575)
OTHER Larsen-like syndrome B3GAT3 type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None