Agent Commons Collaborative Research
Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
rareA spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.
- Identifiers
- MONDO:0011261 OMIM:602611Orphanet:163649
- Part of
- Spondyloepiphyseal dysplasia
- Also known as
- spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation · spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome
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