Fraser syndrome 3
MONDO:0054739Mondo
Findings
No curated finding names Fraser syndrome 3 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
- Stillbirth · Second trimester onset
HPO, annotations 2026-09-02
Features
20 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.
- Convex nasal ridgeHPOHP:0000444
- 1 of 1 reported patient
- Cutaneous syndactylyHPOHP:0012725
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Short toeHPOHP:0001831
- 1 of 1 reported patient
- Small scrotumHPOHP:0000046
- 1 of 1 reported patient
- Wide noseHPOHP:0000445
- 1 of 1 reported patient
- Bilateral renal agenesisHPOHP:0010958
- 2 of 3 reported patients
- CryptophthalmosHPOHP:0001126
- 2 of 3 reported patients
- Hypoplasia of the bladderHPOHP:0005343
- 2 of 3 reported patients
- Abnormal lung lobationHPOHP:0002101
- 1 of 3 reported patients
- AscitesHPOHP:0001541
- 1 of 3 reported patients
Show the remaining 8
- HydrocephalusHPOHP:0000238
- 1 of 3 reported patients
- Hypoplasia of penisHPOHP:0008736
- 1 of 3 reported patients
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 3 reported patients
- OligohydramniosHPOHP:0001562
- 1 of 3 reported patients
- Simple earHPOHP:0020206
- 1 of 3 reported patients
- Sonographic non-visualized fetal bladderHPOHP:0034217
- 1 of 3 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.
- GRIP1HGNC:18708
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of