HYPOSPADIAS 2, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: HYSP2
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300758
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000808) Penoscrotal hypospadias 4 / 7739
2
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hypospadias is a common malformation in which the urethra opens on the ventral side of the penis (Fukami et al., 2006).
Molecular genetics OMIM Fukami et al. (2006) performed direct sequencing of the coding exons 3-6 of the CXORF6 (MAMLD1) gene and their flanking splice sites in 166 individuals with various types of 46,XY disorders of sex development. They identified 3 nonsense ...