Term Name: | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 |
---|---|
Synonyms: | SSFSC2 |
Definition: | A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. |
Ontology: | Human Disease [DOID:0112358] ( DOID:0112358 ) |