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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease night blindness
Comorbidity C0730290|cone dystrophy
Sentences 1
PubMedID- 21843323 The main clinical features are rod-cone dystrophy with childhood-onset night blindness and visual loss, post-axial polydactyly, truncal obesity that manifests during infancy and remains problematic throughout adulthood, specific learning difficulties, male hypogenitalism and complex female genitourinary malformations.

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