MACROSOMIA ADIPOSA CONGENITA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 248100
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:0002591) Polyphagia 25 / 7739
2
 (HPO:0008256) Adrenocortical adenoma 3 / 7739
3
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
4
 (HPO:0001520) Large for gestational age 34 / 7739
5
 (HPO:0001513) Obesity 172 / 7739
6
 (HPO:0001880) Eosinophilia 35 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Precocious skeletal development 1 / 7739
9
 (OMIM) Precocious teeth development 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: