Search Ontology:
Human Disease
STAD syndrome
- Term ID
- DOID:0070699
- 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC12618068/#sd
- References
- Ontology
- Human Disease ( DOID:0070699 )
Other Pages
Genes Involved
Zebrafish Models