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mental retardation, X-linked, syndromic 14
Genetics:
- associated defects in UPF3B
Clinical manifestations:
- phenotype of MRXS14 is variable
- common features include mild to severe mental retardation, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, & pectus deformities
References
UniProt :accession Q9BZI7