OBO ID: DOID:0112358 |
Term Name: | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112358 ) |
OTHER short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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