| Term Name: | STAD syndrome |
|---|---|
| Synonyms: | skeletal dysplasia, tooth anomalies, and developmental delay syndrome |
| Definition: | A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13. |
| Ontology: | Human Disease [DOID:0070699] ( DOID:0070699 ) |