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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype C0027765|neurological disease
Sentences 1
PubMedID- 25270028 Mutations in steroid 5α-reductase type 3 encoding gene (srd5a3) lead to a purely neurological disease with developmental delay, ataxia and early visual impairment with optic atrophy (cantagrel et al 2010; morava et al 2010).

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