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autosomal recessive cutis laxa type III
Summary
- Synonym
-
- De Barsy syndrome
- cutis laxa-corneal clouding-intellectual disability 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.
- Super Class
- autosomal recessive disease cutis laxa
External Links
- Disease Ontology
- DOID:0070143
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54886 | Delta-1-pyrroline-5-carboxylate synthase |
