mental retardation syndromic X-linked JARID1C-related (MRXSJ)

Genetics

• associated with defects in KDM5C

Clinical manifestations

• mental retardation
• impairments in adaptative behavior manifested during development
• variable features
  • slowly progressive spastic paraplegia
  • seizures
  • facial dysmorphism

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/300534