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Metadata
ID	DOID:0112358
Name	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
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/
Xrefs	MIM:619184
Synonyms	SSFSC2 [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance