Condition: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE


rs1556235551 in UBE2A gene and MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE PMID 20412111 2010 Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

PMID 16909393 2006 UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.