46,XX disorder of sex development - skeletal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Female pseudohermaphroditism - skeletal anomalies
Number of Symptoms 17
OrphanetNr: 2975
OMIM Id: 264270
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with 46,XX disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000062) Ambiguous genitalia 74 / 7739
2
 (HPO:0000057) Clitoromegaly 30 / 7739
3
 (HPO:0000786) Primary amenorrhea 61 / 7739
4
 (HPO:0000869) Secondary amenorrhea Very frequent [Orphanet] 42 / 7739
5
 (HPO:0010458) Female pseudohermaphroditism Very frequent [Orphanet] 17 / 7739
6
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
7
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
8
 (HPO:0005790) Short mandibular condyles 1 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
11
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
12
 (HPO:0005856) Ulnar radial head dislocation 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Fusion of humerus 1 / 7739
15
 (OMIM) Normal vagina, ovaries, tubes and uterus 1 / 7739
16
 (OMIM) Normal female karyotype 1 / 7739
17
 (OMIM) Marked fusion of labioscrotal folds 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: