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 )

Relationships
is a type of: autosomal dominant disease syndrome