CHROMOSOME 22q13 DUPLICATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615538
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:0000537) Epicanthus inversus 7 / 7739
2
 (HPO:0000418) Narrow nasal ridge 15 / 7739
3
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
4
 (HPO:0000463) Anteverted nares 305 / 7739
5
 (HPO:0007302) Bipolar affective disorder 15 / 7739
6
 (HPO:0002591) Polyphagia 25 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: