spondyloepiphyseal dysplasia, Nishimura type (Q55783290)
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Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome
- SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | spondyloepiphyseal dysplasia, Nishimura type |
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit |
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