CHROMOSOME 5q12 DELETION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 615668
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:0000347) Micrognathia 426 / 7739
2
 (HPO:0000448) Prominent nose 56 / 7739
3
 (HPO:0000637) Long palpebral fissure 21 / 7739
4
 (HPO:0002003) Large forehead 9 / 7739
5
 (HPO:0000343) Long philtrum 262 / 7739
6
 (HPO:0000331) Short chin 33 / 7739
7
 (HPO:0000565) Esotropia 58 / 7739
8
 (HPO:0000508) Ptosis 459 / 7739
9
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
10
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0000750) Delayed speech and language development 197 / 7739
14
 (HPO:0100807) Long fingers 23 / 7739
15
 (HPO:0010511) Long toe 9 / 7739
16
 (HPO:0001510) Growth delay 295 / 7739
17
 (HPO:0001519) Disproportionate tall stature 39 / 7739
18
 (HPO:0002615) Hypotension 52 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: