WAARDENBURG SYNDROME, TYPE 2D

General Information (adopted from Orphanet):

Synonyms, Signs: WAARDENBURG SYNDROME, TYPE IID
WS2D
Number of Symptoms 6
OrphanetNr:
OMIM Id: 608890
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000506) Telecanthus 156 / 7739
2
(HPO:0001100) Heterochromia iridis 31 / 7739
3
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Dystopia canthorum absent 2 / 7739
6
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, ...
Clinical Description OMIM Sanchez-Martin et al. (2002) reported 2 unrelated patients with WS2D. One was a 15-year-old girl of Bangladeshi origin with profound bilateral sensorineural hearing loss and heterochromia irides, but no other dysmorphic features or pigmentary changes. The other patient ...
Molecular genetics OMIM The identification of Slug, a zinc finger transcription factor expressed in migratory neural crest cells, as the gene responsible for pigmentary disturbances in mice (see Perez-Losada et al., 2002) prompted Sanchez-Martin et al. (2002) to analyze the role ...