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short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Summary
- Synonym
-
- SSFSC
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112358
- Mondo Disease Ontology
- OMIM
