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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