mental retardation syndromic X-linked type 14
mental retardation syndromic X-linked type 14A 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.
Caused by defects of UPF3B, which encodes a protein involved in mRNA nuclear export and in mRNA surveillance.
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