mental retardation syndromic X-linked type 14

(redirected from MRXS14)

mental retardation syndromic X-linked type 14

A form of mental retardation (OMIM:300676) variably associated with autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities.

Molecular pathology
Caused by defects of UPF3B, which encodes a protein involved in mRNA nuclear export and in mRNA surveillance.