DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive cutis laxa type III

Autosomal recessive cutis laxa type III [DOID:0070143]

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.

Synonyms:  autosomal recessive cutis laxa type III,  DOID:0070143,  autosomal recessive cutis laxa type IIIs,  De Barsy syndrome,  cutis laxa-corneal clouding-intellectual disability syndrome ...