mental retardation, nonsyndromic autosomal recessive 13

Genetics

• associated with mutations in TRAPPC9 are the cause of autosomal recessive mental retardation type 13

Clinical manifestations

• significantly below average general intellectual functioning
• impairment in adaptive behavior
• manifested during devolopmenta
• microcephaly is present in some but not all affected patients

Radiology

• neuroimaging
  • brain magnetic resonance imaging
    • mild cerebral white matter hypoplasia

More general terms

• mental retardation, nonsyndromic

Database

• OMIM: https://mirror.omim.org/entry/611093