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4 OMIM references -
2 associated genes
1 sign/symptom
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial hypospadias
Isolated optic nerve hypoplasia

AR PAX6
MAMLD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AR
(0.87)
PAX6



Citations in the biomedical literature:


Familial hypospadias
AR MAMLD1
Isolated optic nerve hypoplasia
PAX6



Familial hypospadias
Isolated optic nerve hypoplasia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Familial hypospadias

Very frequent
- Hypospadias / epispadias / bent penis



Isolated optic nerve hypoplasia

(no data available)