WAARDENBURG SYNDROME, TYPE 2B

General Information (adopted from Orphanet):

Synonyms, Signs: WAARDENBURG SYNDROME, TYPE IIB
WS2B
Number of Symptoms 9
OrphanetNr:
OMIM Id: 600193
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000271) Abnormality of the face 108 / 7739
2
(HPO:0001100) Heterochromia iridis 31 / 7739
3
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
6
(HPO:0002216) Premature graying of hair 43 / 7739
7
(HPO:0002211) White forelock 18 / 7739
8
(OMIM) No dystopia canthorum 1 / 7739
9
(OMIM) No facial dysmorphism 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Waardenburg syndrome type II (WS2) 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 ...