WDR45 was initially identified in a subset of patients with atypical x-linked neurodegeneration with brain iron accumulation (NBIA) in 2012. The disorder is typically characterized by later (adolescence to adulthood) neurologic deterioration, loss of skills, and progressive impairment. Many individuals were described as presenting in childhood with epilepsy and neurodevelopmental impairment or intellectual disability. The childhood presentation led to the inclusion of this gene on epilepsy panels with resulting earlier identification, broadened phenotypes, and reports of patients at younger ages. The expert panel decided to curate this gene for the X-linked complex neurodevelopmental disorder phenotype which represents a spectrum of neurologic presentations that can include epilepsy, autism, movement disorders, and intellectual disability. It should be noted that a review of the literature identified 34 adolescent and adult cases and 17 pediatric cases. Given the earlier identification, increased reporting, and variable phenotypes, the ultimate course and variability of this disorder may not yet be determined.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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