| Term Name: | autosomal recessive cutis laxa type III |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070143] ( DOID:0070143 ) |