|OBO ID: DOID:0112358|
|Term Name:||short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies||Search Ontology:|
|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 SCUBE3 on chromosome 6p21.31. https://pubmed.ncbi.nlm.nih.gov/33308444/|
|Ontology:||Human Disease (DOID:0112358)|
|is a type of:||
OTHER short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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