| Metadata | |
|---|---|
| ID | DOID:0050812 |
| Name | 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. http://omim.org/entry/612847, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 |
| Xrefs | |
| Synonyms |
spondyloepimetaphyseal dysplasia Pakistani type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |