Disease | dwarfism |
Phenotype | C0265294|metaphyseal dysplasia |
Sentences | 2 |
PubMedID- 20538026 | Although its most constant feature is metaphyseal dysplasia with short stature, chh is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. |
PubMedID- 24300288 | It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies. |
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