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Human Disease

Coffin-Siris syndrome 7

Term ID
DOID:0112369
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
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Genes Involved
Zebrafish Models