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Metadata
ID DOID:0070143
Name autosomal recessive cutis laxa type III
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.
https://www.ncbi.nlm.nih.gov/pubmed/18388779
Xrefs

GARD:49

MESH:C535990

ORDO:2962

SNOMEDCT_US_2018_03_01:59252009

UMLS_CUI:C0268354

Synonyms

cutis laxa-corneal clouding-intellectual disability syndrome [EXACT]

De Barsy syndrome [EXACT]

Parent Relationships

is_a cutis laxa

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