hypospadias 2, X-linked
MONDO:0010423Mondo
Findings
No curated finding names hypospadias 2, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Penoscrotal hypospadiasHPOHP:0000808
- 4 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAMLD1HGNC:2568
- Strong · Ambry Genetics · X-linked · 2018
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · G2P · X-linked · 2015
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: hypospadias 2, X-linked
- Also called
- hypospadias 2, X-linked, X-linked recessive