mental retardation, X-linked, syndromic 15

Genetics

• associated defects in CUL4B

Clinical manifestations

• significantly below average general intellectual functioning
• impairments in adaptative behavior
• manifested during the developmental period.
• distinguishing manifestations of MRXS15 are
  • relative microcephaly
  • short stature
  • hypertelorism
  • macrostomia
  • patulous lips
  • difficulty in speech
  • micrognathia
  • short thumbs
  • little fingers with adduction
  • hypotonia at age < 10 years, & later hypertonia
  • restlessness
  • seizures.
• obligate carrier females are clinically normal except for rather large hands with deep palmar & finger creases with rhagades

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/300639