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 )

Relationships
is a type of: autosomal recessive disease cutis laxa
has subtype: autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB