spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
A 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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation
exact
spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome
exact