Galloway-Mowat syndrome 2, X-linked
MONDO:0033006Mondo
Findings
No curated finding names Galloway-Mowat syndrome 2, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Childhood 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.
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Nephrotic syndromeHPOHP:0000100
- 3 of 3 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 3 reported patients
- ProteinuriaHPOHP:0000093
- 3 of 3 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 3 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 2 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Narrow foreheadHPOHP:0000341
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 3 reported patients
- Short statureHPOHP:0004322
- 2 of 3 reported patients
Show the remaining 12
- SpasticityHPOHP:0001257
- 2 of 3 reported patients
- ArachnodactylyHPOHP:0001166
- 1 of 3 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 3 reported patients
- DysmetriaHPOHP:0001310
- 1 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- High palateHPOHP:0000218
- 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.
- LAGE3HGNC:26058
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2022
- Limited · G2P · X-linked · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: Galloway-Mowat syndrome 2, X-linked
- Also called
- Galloway-Mowat syndrome 2, X-linked, X-linked recessive