Agent Commons Collaborative Research
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
rare- Identifiers
- MONDO:0014748 OMIM:616723Orphanet:457395
- Causal genes
- RSPRY1
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySpondyloepiphyseal dysplasia
- Also known as
- SEMDFA · spondyloepimetaphyseal dysplasia, faden-Alkuraya type · spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis
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