OBO ID: DOID:0112368
Term Name: Coffin-Siris syndrome 5 Search Ontology:
Synonyms:
  • CSS5
Definition: A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. (2)
References:
Ontology: Human Disease   ( DOID:0112368 )
Relationships
is a type of:
OTHER Coffin-Siris syndrome 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMARCE1 Coffin-Siris syndrome 5 616938
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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