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Human Disease

Coffin-Siris syndrome 5

Term ID
DOID:0112368
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
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Genes Involved
Zebrafish Models