ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616029
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:0006297) Hypoplasia of dental enamel 64 / 7739
2
 (HPO:0000668) Hypodontia 81 / 7739
3
 (HPO:0002015) Dysphagia rare [HPO:skoehler] 301 / 7739
4
 (HPO:0004322) Short stature 1232 / 7739
5
 (HPO:0001798) Anonychia 28 / 7739
6
 (HPO:0008404) Nail dystrophy 89 / 7739
7
 (HPO:0000962) Hyperkeratosis 216 / 7739
8
 (HPO:0002099) Asthma rare [HPO:skoehler] 62 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: