OBO ID: DOID:0070143
Term Name: autosomal recessive cutis laxa type III Search Ontology:
Synonyms:
  • cutis laxa-corneal clouding-intellectual disability syndrome
  • De Barsy syndrome
Definition: A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. https://www.ncbi.nlm.nih.gov/pubmed/18388779
References:
  • GARD:49
  • MESH:C535990
  • ORDO:2962
  • SNOMEDCT_US_2022_03_01:238826008
  • UMLS_CUI:C0268354
Ontology: Human Disease   (DOID:0070143)
OTHER autosomal recessive cutis laxa type III PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None