| 释义 |
Snuphanuph, Lady Snuphanuph, Ladyobese visitor at Bath. [Br. Lit.: Pickwick Papers]See: FatnessSnyder-Robinson syndrome
Snyder-Robinson syndrome An X-linked condition (OMIM:309583) characterised by mental retardation; marfanoid habitus; reduced muscle bulk; osteoporosis; kyphoscoliosis; long, thin face; slight facial asymmetry with a prominent lower lip; nasal voice; high, narrow or cleft palate; and long, thin fingers and toes.
Molecular pathology
Defects of SMS, which encodes a protein of the spermidine/spermin synthase family, cause Snyder-Robinson syndrome.AcronymsSeeSRS |