Term Name:	spondyloepimetaphyseal dysplasia, Pakistani type
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 )