SINGLETON-MERTEN SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 616298
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:0000501) Glaucoma 180 / 7739
2
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
3
(HPO:0000962) Hyperkeratosis 216 / 7739
4
(HPO:0001650) Aortic valve stenosis rare [HPO:skoehler] 49 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: