| Symbol
| PTLAH
|
| Location
| 17q23.2
|
| HGNC id
| 9622
|
| Name
|
patella, aplasia-hypoplasia |
| Other name(s)
|
Scott-Taor syndrome
coxo-podo patellar syndrome, or ischiopatellar dysplasia |
| Corresponding gene
|
TBX4
|
| Other symbol(s)
| SMS
|
| Main clinical features
|
isolated, characterized by patella aplasia or hypoplasia associated with various anomalies of pelvis and foot |
| Genetic determination
| autosomal dominant |
| Related entries
| may include small patella syndrome (OMIM 147891)
|
| Function/system disorder
| osteo-articular |
| Type
| disease
|