GONADAL AGENESIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 600171
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:0000119) Abnormality of the genitourinary system 34 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Normal female external genitalia 1 / 7739
4
(OMIM) Gonadal agenesis 1 / 7739
5
(OMIM) Hypoplastic mullerian derivatives 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mendonca et al. (1994) described an apparently autosomal recessive form of gonadal agenesis in 2 agonadic sisters, one with a 46,XY and the other with a 46,XX karyotype, and both with normal female external genitalia and hypoplastic mullerian ...