RENAL AND MULLERIAN DUCT HYPOPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 266810
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:0000085) Horseshoe kidney 39 / 7739
2
 (HPO:0100673) Vaginal hydrocele 8 / 7739
3
 (HPO:0000151) Aplasia of the uterus 12 / 7739
4
 (HPO:0000034) Hydrocele testis 18 / 7739
5
 (HPO:0008648) Anteriorly displaced urethral meatus 1 / 7739
6
 (HPO:0000089) Renal hypoplasia 78 / 7739
7
 (HPO:0000316) Hypertelorism 644 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0003196) Short nose 264 / 7739
10
 (HPO:0002007) Frontal bossing 366 / 7739
11
 (HPO:0000486) Strabismus 576 / 7739
12
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
13
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
14
 (OMIM) Mullerian duct hypoplasia 1 / 7739
15
 (OMIM) Inguinal testes 2 / 7739
16
 (OMIM) Developmental retardation, severe 2 / 7739
17
 (OMIM) Growth retardation, severe (if untreated) 5 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Micrognathia, mild 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: