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PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Phenotype C0026703|mucopolysaccharidosis
Sentences 1
PubMedID- 26213785 Patients with msd therefore show severe neurodegeneration with mental retardation, hepatosplenomegaly, short stature (resembling mucopolysaccharidosis), combined with xli-type skin and skeletal changes as observed in chondrodysplasia punctata (omim 302950) (227).

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