autosomal recessive cutis laxa type III

Term ID

DOID:0070143

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. https://www.ncbi.nlm.nih.gov/pubmed/18388779

References

GARD:49
MESH:C535990
ORDO:2962
SNOMEDCT_US_2023_03_01:238826008
UMLS_CUI:C0268354

Ontology

Human Disease ( DOID:0070143 )

Relationships

is a type of: autosomal recessive disease cutis laxa

autosomal recessive disease cutis laxa Show first 5 Terms
has subtype: autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB

autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations