Biemond syndrome type 2

Biemond syndrome type 2 (BS2) is an exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus ...1

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Symptoms of Biemond syndrome type 2

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: Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly; BS2 ...Source: GARD (NIH)2 ...

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References

  1. Source: Monarch Initiative
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 882/ biemond-syndrome-2

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.