PedAM
Pediatric Disease Annotations & Medicines
| Disease | dystonia |
| Phenotype | C0002453|amenorrhea |
| 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. |
Page: 1