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Ontology Browser

Coffin-Siris Syndrome 8 (DOID:9002142)
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 6  
Coffin-Siris Syndrome 7  
Coffin-Siris Syndrome 8  
Coffin-Siris syndrome-8 (CSS8) is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermillion, and upturned nose. CSS8 is caused by heterozygous mutation in the SMARCC2 gene on chromosome 12q13. (OMIM)

Exact Synonyms: CSS8
Primary IDs: OMIM: 618362

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