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Ontology Browser

Term:
Coffin-Siris Syndrome 5 (DOID:9009053)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal dominant non-syndromic intellectual disability 27  
Coffin-Siris syndrome 1  
Coffin-Siris Syndrome 10  
Coffin-Siris syndrome 2  
Coffin-Siris syndrome 3  
Coffin-Siris syndrome 4  
Coffin-Siris Syndrome 5  
Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly. Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects. (OMIM)
Coffin-Siris syndrome 6  
Coffin-Siris Syndrome 7  
Coffin-Siris Syndrome 8  

Synonyms
Exact Synonyms: CSS5
Primary IDs: OMIM:616938

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.