Fraser syndrome 1
MONDO:0054737Mondo
Findings
No curated finding names Fraser syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 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.
- CryptophthalmosHPOHP:0001126
- 2 of 2 reported patients
- Enlarged fetal lungsHPOHP:6000613
- 1 of 1 reported patient · Fetal onset
- Laryngeal stenosisHPOHP:0001602
- 2 of 2 reported patients
- Pulmonary hyperplasiaHPOHP:6001258
- 2 of 3 reported patients
- AnophthalmiaHPOHP:0000528
- 1 of 2 reported patients
- Bicornuate uterusHPOHP:0000813
- 1 of 2 reported patients
- Cleft palateHPOHP:0000175
- 1 of 2 reported patients
- Cleft upper lipHPOHP:0000204
- 1 of 2 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 1 of 2 reported patients
- Facial asymmetryHPOHP:0000324
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 2 reported patients
- Small nailHPOHP:0001792
- 1 of 2 reported patients
Genes
2 genes
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.
- FRAS1HGNC:19185
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- FREM2HGNC:25396
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of