CHROMOSOME 15q11.2 DELETION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 615656
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:0000337) Broad forehead 116 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0001357) Plagiocephaly 106 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0000729) Autistic behavior 27 / 7739
7
 (HPO:0000750) Delayed speech and language development 197 / 7739
8
 (HPO:0000722) Obsessive-compulsive behavior 35 / 7739
9
 (HPO:0002312) Clumsiness 28 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0001238) Slender finger 23 / 7739
14
 (HPO:0011968) Feeding difficulties 240 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0040082) Happy demeanor 6 / 7739
17
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: