Fraser syndrome 2
MONDO:0054738Mondo
Findings
No curated finding names Fraser syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- Ambiguous genitaliaHPOHP:0000062
- 3 of 3 reported patients
- Aplasia of the bladderHPOHP:0010477
- 3 of 4 reported patients
- CryptophthalmosHPOHP:0001126
- 3 of 4 reported patients
- Cutaneous syndactylyHPOHP:0012725
- 3 of 4 reported patients
- Bilateral renal agenesisHPOHP:0010958
- 2 of 4 reported patients
- OligohydramniosHPOHP:0001562
- 2 of 4 reported patients
- Anal atresiaHPOHP:0002023
- 1 of 4 reported patients
- Atresia of the external auditory canalHPOHP:0000413
- 1 of 4 reported patients
- Hypoplasia of the epiglottisHPOHP:0005349
- 1 of 4 reported patients
- Hypoplasia of the thymusHPOHP:0000778
- 1 of 4 reported patients
- Intestinal malrotationHPOHP:0002566
- 1 of 4 reported patients
- Low anterior hairlineHPOHP:0000294
- 1 of 4 reported patients
Show the remaining 12
- Low-set earsHPOHP:0000369
- 1 of 4 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 4 reported patients
- Narrow mouthHPOHP:0000160
- 1 of 4 reported patients
- Rectal atresiaHPOHP:0025023
- 1 of 4 reported patients
- Renal agenesisHPOHP:0000104
- 1 of 4 reported patients
- Respiratory failureHPOHP:0002878
- 1 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.
- FREM2HGNC:25396
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of