short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2

Term ID

DOID:0112358

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. https://pubmed.ncbi.nlm.nih.gov/33308444/

References

• MIM:619184

Ontology

Human Disease   ( DOID:0112358 )