The association between the NDP gene and Norrie disease (ND) is well-characterized, with over 100 unique variants described in HGMD, including nonsense, missense, splice, and deletion variants reported in dozens of publications. Familial segregation data is readily available; only a subset are included in this curation. Experimental evidence includes several mouse models of disease and protein interaction studies highlighting NDP's role in FZD4 interaction and Wnt signaling.
NOTE: In terms of X-linked intellectual disability, ND is incompletely penetrant. The main phenotype associated with ND is abnormal vascular development within the eye, and only ~50% of patients with ND exhibit intellectual disability.
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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