Fountain syndrome

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. ...1

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Symptoms of Fountain syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Names and Terminology

Other Names: Intellectual disability, deafness, skeletal abnormalities, coarse face with full lips; Deafness, skeletal dysplasia, lip granuloma ...Source: GARD (NIH)2 ...

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References

  1. Source: Monarch Initiative
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 64/ fountain-syndrome

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