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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease c syndrome
Comorbidity 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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