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Human Disease

autosomal recessive cutis laxa type III

Term ID
DOID:0070143
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_2023_03_01:238826008
  • UMLS_CUI:C0268354
Ontology
Human Disease   ( DOID:0070143 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models