X-linked mental retardation, syndromic, Christianson type (MRXS-christianson, X-linked Angelman-like syndrome)

Genetics

• X-linked
• associated with defects in SLC9A6 gene

Clinical manifestations

• profound mental retardation
• epilepsy
• ataxia
• microcephaly
• phenotypic overlap with Angelman syndrome

More general terms

• X-linked mental retardation syndromic

Additional terms

• Angelman syndrome (happy puppet syndrome)

Database

• OMIM: https://mirror.omim.org/entry/300243