Term Name: | spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability |
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Synonyms: | |
Definition: | A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. |
Ontology: | Human Disease [DOID:0112294] ( DOID:0112294 ) |