spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

Term ID

DOID:0112294

Synonyms

Definition

A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. https://pubmed.ncbi.nlm.nih.gov/9557884/

References

• OMIM:602611
• ORDO:163649

Ontology

Human Disease   ( DOID:0112294 )