Term Name: | spondyloepimetaphyseal dysplasia, Pakistani type |
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Synonyms: | spondyloepimetaphyseal dysplasia Pakistani type |
Definition: | A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. |
Ontology: | Human Disease [DOID:0050812] ( DOID:0050812 ) |