OBO ID: DOID:0112369
Term Name: Coffin-Siris syndrome 7 Search Ontology:
Synonyms:
  • CSS7
Definition: A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/29429572/
References:
Ontology: Human Disease   ( DOID:0112369 )
Relationships
is a type of:
OTHER Coffin-Siris syndrome 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DPF2 Coffin-Siris syndrome 7 618027
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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