X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder primarily characterized by Autism, Intellectual Disability, and Epilepsy.
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X-linked developmental disorder-98 (XLID98) is a neurodevelopmental disorder referred to in a variety of ways. While it may be referred to as the name of the disorder itself, some refer to this disorder by the name of its genetic underpinnings. The gene of origin was first referred to as KIAA2022, as it was discovered in the context of the development of the Human Unidentified Gene-Encoded database. This denomination was the first to be approved by the HUGO Gene Nomenclature Committee, the organisation responsible for assigning unique names and symbols to genes and their products.
KIAA2022 was later referred to as the Neurite Extension and MIgration Factor (NEXMIF) because of its demonstrated role in these crucial neuronal development processes. This novel denomination was approved to replace KIAA2022 by the HUGO Gene Nomenclature Committee and is currently the only approved name for the gene/protein mutated in XLID98. Other than the approved nomenclature, NEXMIF has also alternatively been referred to as X-linked Mental Retardation protein related to neurite extension (XPN).
The disorder itself has also been referred to in literature with alternative names such as
KIAA2022 linked intellectual disability with language impairment and autistic behavior
(KIDLIA) and Mental retardation X-linked 98 (MRX98). Often used interchangeably, XLID98, MRX98 and KIDLIA all refer to the disorder caused by mutations of NEXMIF/KIAA2022/XPN.