Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 10 for "Coffin-Siris" syndrome
Did you mean "Coffin-iris" syndrome?
  1. Coffin-Siris syndrome 
    Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  2. ARID1B gene 
    ... the ARID1B gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. Most ARID1B gene variants involved in Coffin-Siris syndrome lead to an abnormally short, nonfunctional protein. As ...
    https://medlineplus.gov/genetics/gene/arid1b - Genetics
  3. SOX11 gene 
    ... the SOX11 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by intellectual disability, abnormalities ... as coarse. Most SOX11 gene variants involved in Coffin-Siris syndrome alter the SOX11 protein or prevent its production. ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  4. SMARCB1 gene 
    ... the SMARCB1 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. The SMARCB1 gene variants involved in Coffin-Siris syndrome are germline variants, which means that they are ...
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
  5. ARID1A gene 
    ... as mutations) in the ARID1A gene can cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. The ARID1A gene variants involved in Coffin-Siris syndrome lead to an abnormally short, nonfunctional protein. As ...
    https://medlineplus.gov/genetics/gene/arid1a - Genetics
  6. SMARCA4 gene 
    ... the SMARCA4 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. The SMARCA4 gene variants involved in Coffin-Siris syndrome are germline variants, which means that they are ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  7. SMARCE1 gene 
    ... known as mutations) in the SMARCE1 gene cause Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of ... as coarse. Most SMARCE1 gene variants involved in Coffin-Siris syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/smarce1 - Genetics
  8. DOORS syndrome 
    ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  9. TBC1D24 gene 
    ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  10. Anonychia congenita 
    ... that affect multiple parts of the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is ...
    https://medlineplus.gov/genetics/condition/anonychia-congenita - Genetics