obsolete Waardenburg syndrome type 2D
MONDO:0012144
OBSOLETE. Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.
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Waardenburg syndrome type 2D
Waardenburg syndrome type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea. This subtype lacks the wide distance between the eyes, known as dystopia canthorum, that is observed in most patients with Waardenburg syndrome. Those affected, exhibit varying degrees of deafness or complete hearing loss along with heterochromia and reports of early graying. This disease is observed in the neonatal stages of early life.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.