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1
Q48887866-0F551ACF-8FA4-4463-8DD5-3F0168037FB3
Q48887866-0F551ACF-8FA4-4463-8DD5-3F0168037FB3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48887866-0F551ACF-8FA4-4463-8DD5-3F0168037FB3
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
P2860
Q48887866-0F551ACF-8FA4-4463-8DD5-3F0168037FB3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48887866-0F551ACF-8FA4-4463-8DD5-3F0168037FB3
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
28fa8dd909a9dcfa714d13ea4fa760f6f0287445
P2860
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.