DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 220900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000365) Hearing impairment 539 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0001022) Albinism 43 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ziprkowski and Adam (1964) described a Sephardic Jewish family from Morocco in which 2 children in each of 2 families with consanguineous parents had congenital deafness with total albinism. The 2 sibships were related to each other and ...
Molecular genetics OMIM Lezirovitz et al. (2006) identified a homozygous mutation in the GJB2 gene (121011.0005) in 3 members of a Brazilian family with sensorineural hearing loss consistent with DFNB1. Interestingly, 1 of the patients had only mild hearing loss that ...