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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | CHM |
Bryony Thompson gene: CHM was added gene: CHM was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CHM were set to Retinitis pigmentosa; Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) |
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