Waardenburg syndrome type 2E

Waardenburg syndrome type 2E: A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in heterozygous mutations ...1

... More on Waardenburg syndrome type 2E »

   •   •   •

Back to: « Waardenburg syndrome

   •   •   •

Waardenburg Syndrome, Type 2E: See http://www.omim.org/entry/611584 ...2

... More on Waardenburg syndrome type 2E »

Symptoms of Waardenburg syndrome type 2E

Clinical features: Imported from Human Phenotype Ontology (HPO)

... More Symptoms of Waardenburg syndrome type 2E »

Genetics of Waardenburg syndrome type 2E

Modes of inheritance: Heterogeneous (HPO) Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)3 ...

... More on Genetics of Waardenburg syndrome type 2E »

Diagnosis

See also related information on diagnosis:

Names and Terminology

Synonyms: HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION ; WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT ; WS2E, WITH OR WITHOUT NEUROLOGIC ...4

... More General Information on Waardenburg syndrome type 2E »

   •   •   •

References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C2700405/ 
  4. ibid.

   •   •   •

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.