Galloway-Mowat syndrome 3
MONDO:0033007Mondo
Findings
No curated finding names Galloway-Mowat 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
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- MicrophthalmiaHPOHP:0000568
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- ArachnodactylyHPOHP:0001166
- 1 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- Coarctation of aortaHPOHP:0001680
- 1 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- HypertensionHPOHP:0000822
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
Show the remaining 1
- Pectus excavatumHPOHP:0000767
- 1 of 2 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.
- OSGEPHGNC:18028
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
Where it sits
- A kind of