Disease association ontology term - MONDO:0017569 - de Barsy syndrome
Term summary
- ID
- MONDO:0017569
- Name
- de Barsy syndrome
- Ontology or CV name
- Disease association
- Definition
- A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
