mental retardation syndromic X-linked Turner type; mental retardation & macrocephaly syndrome

Genetics

• X-linked
• associated with defects in HUWE1

Clinical manifestations

• variable
• associated phenotypes include macrocephaly & variable contractures

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/300706