Deafness - vitiligo - achalasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 3239
OMIM Id: 221350
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000365) Hearing impairment 539 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
3
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
4
 (HPO:0002571) Achalasia Very frequent [Orphanet] 19 / 7739
5
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
6
 (HPO:0001045) Vitiligo 13 / 7739
7
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
8
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: