MEGAEPIPHYSEAL DWARFISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 249230
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000286) Epicanthus 371 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0001999) Abnormal facial shape 169 / 7739
4
 (HPO:0008494) Inferior lens subluxation 1 / 7739
5
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
6
 (HPO:0004322) Short stature 1232 / 7739
7
 (HPO:0003510) Severe short stature 90 / 7739
8
 (OMIM) Large joints 1 / 7739
9
 (OMIM) Snub nose 4 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: