VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 277465
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008706) Distal urethral duplication 2 / 7739
2
 (HPO:0000444) Convex nasal ridge 87 / 7739
3
 (HPO:0002705) High, narrow palate 308 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001510) Growth delay 295 / 7739
6
 (HPO:0005602) Progressive vitiligo 2 / 7739
7
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
8
 (HPO:0011463) Childhood onset 65 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (HPO:0003621) Juvenile onset 105 / 7739
11
 (OMIM) No chromosomal or immunologic defects 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: