Term Name: | autosomal recessive cutis laxa type III |
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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 ) |