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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

Database Correlations

OMIM 611093

References

  1. OMIM :accession 613192
  2. UniProt :accession Q96Q05