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Human Disease

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
Ontology
Human Disease   ( DOID:0112294 )
Relationships
is a type of
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Genes Involved
Zebrafish Models