Blepharofacioskeletal syndrome

Symptoms of Blepharofacioskeletal syndrome

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Blepharofacioskeletal syndrome

Modes of inheritance: Autosomal dominant inheritance (OMIM, Orphanet) Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)1 ...

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Names and Terminology

Synonyms: CLEFT PALATE, HYPOTELORISM, AND HYPOSPADIAS ; OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS ; Richieri-Costa Guion Almeida Rodini syndrome ; SCHILBACH-ROTT SYNDROME ...Source: GTR (NCBI ...2

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References

  1. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1834038/ 
  2. ibid.

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