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