CHROMOSOME 15q25 DELETION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 614294
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:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0002058) Myopathic facies 26 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
 (HPO:0000204) Cleft upper lip 193 / 7739
6
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
7
 (HPO:0000470) Short neck 345 / 7739
8
 (HPO:0000316) Hypertelorism 644 / 7739
9
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0000767) Pectus excavatum 244 / 7739
12
 (HPO:0100807) Long fingers 23 / 7739
13
 (HPO:0000023) Inguinal hernia 181 / 7739
14
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
15
 (HPO:0004322) Short stature 1232 / 7739
16
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
17
 (HPO:0001651) Dextrocardia rare [HPO:skoehler] 38 / 7739
18
 (HPO:0001972) Macrocytic anemia 26 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: