HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 616006
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:0012368) Flat face 106 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000160) Narrow mouth 188 / 7739
4
 (HPO:0000286) Epicanthus 371 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000581) Blepharophimosis 197 / 7739
7
 (HPO:0008551) Microtia 98 / 7739
8
 (HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
9
 (HPO:0012385) Camptodactyly 113 / 7739
10
 (HPO:0002593) Intestinal lymphangiectasia 6 / 7739
11
 (HPO:0001510) Growth delay 295 / 7739
12
 (HPO:0005183) Pericardial lymphangiectasia 2 / 7739
13
 (HPO:0001004) Lymphedema 62 / 7739
14
 (HPO:0006521) Pulmonary lymphangiectasia 6 / 7739
15
 (HPO:0040079) Irregular dentition 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: