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.

[1]

Synonyms

cutis laxa-corneal clouding-intellectual disability syndrome
De Barsy syndrome

Cross References

Parent Terms

Child Terms

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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autosomal recessive cutis laxa type III

autosomal recessive cutis laxa type III

Associated Genes

Associated Alleles

Associated Models