OBO ID: DOID:0050475
Term Name: Weill-Marchesani syndrome Search Ontology:
Synonyms:
  • congenital mesodermal dystrophy
  • GEMSS syndrome
  • Marchesani-Weill Syndrome
  • Mesodermal Dysmorphodystrophy, Congenital
  • Spherophakia Brachymorphia Syndrome
Definition: A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (2)
References:
Ontology: Human Disease   (DOID:0050475)
OTHER Weill-Marchesani syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADAMTS10 Weill-Marchesani syndrome 1, recessive 277600
ADAMTS17 Weill-Marchesani 4 syndrome, recessive 613195
FBN1 Weill-Marchesani syndrome 2, dominant 608328
LTBP2 ?Weill-Marchesani syndrome 3, recessive 614819
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None