SERKAL syndrome
Findings
No curated finding names SERKAL syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.
Definition from the Mondo Disease Ontology (MONDO:0012734), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
23 features
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.
- Growth delayHPOHP:0001510
- Obligate (100% of cases)
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients
- OligohydramniosHPOHP:0001562
- 3 of 3 reported patients
- Obligate (100% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- 3 of 3 reported patients
- Obligate (100% of cases)
- Renal agenesisHPOHP:0000104
- 3 of 3 reported patients
- Obligate (100% of cases)
- Sex reversalHPOHP:0012245
- 3 of 3 reported patients
- Obligate (100% of cases)
Show the remaining 11
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 3 reported patients
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Malrotation of small bowelHPOHP:0004794
- Frequent (30% to 79% of cases)
- Orofacial cleftHPOHP:0000202
- Frequent (30% to 79% of cases)
- Pulmonic stenosisHPOHP:0001642
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
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.
- WNT4HGNC:12783
- Strong · G2P · Autosomal recessive · 2015
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: SERKAL syndrome
- Also called
- 46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungsSex reversion-kidneys, adrenal and lung dysgenesis syndrome