OBO ID: DOID:0112358
Term Name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Search Ontology:
Synonyms:
  • 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 SCUBE3 on chromosome 6p21.31. https://pubmed.ncbi.nlm.nih.gov/33308444/
References:
Ontology: Human Disease   (DOID:0112358)
OTHER short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCUBE3 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 619184
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None