PedAM
Pediatric Disease Annotations & Medicines
| Disease | myotonia |
| Phenotype | C0410528|skeletal dysplasia |
| Sentences | 1 |
| PubMedID- 24175015 | Objective: stuve-wiedemann syndrome (sws; mim 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. |
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