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PedAM

Pediatric Disease Annotations & Medicines




Disease amenorrhea
Phenotype C0013421|dystonia
Sentences 1
PubMedID- 24733832 The patient showed slowly progressive cerebellar ataxia from 2 years of age, and mri revealed atrophy of the cerebellum, oculomotor apraxia, mild cognitive impairment, writing dystonia, hypergonadotropic hypogonadism with primary amenorrhea, and hypersegmented neutrophils.

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