| 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 |
SNOMEDCT_US_2023_03_01:238826008 |
| Subsets |
DO_rare_slim |
| Synonyms |
cutis laxa-corneal clouding-intellectual disability syndrome [EXACT] De Barsy syndrome [EXACT] |
| Parent Relationships |
is_a cutis laxa |