CHROMOSOME Xq26.3 DUPLICATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 300942
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:0000280) Coarse facial features 189 / 7739
2
 (HPO:0000845) Growth hormone excess 18 / 7739
3
 (HPO:0002893) Pituitary adenoma 16 / 7739
4
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
5
 (HPO:0001833) Long foot 33 / 7739
6
 (HPO:0001176) Large hands 43 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: