Galloway-Mowat syndrome 6
MONDO:0032691Mondo
Findings
No curated finding names Galloway-Mowat syndrome 6 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
- Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
28 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Growth delayHPOHP:0001510
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 7 of 7 reported patients
- MicrodontiaHPOHP:0000691
- 2 of 2 reported patients
Show the remaining 16
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Motor stereotypyHPOHP:0000733
- 2 of 2 reported patients
- Paroxysmal bursts of laughterHPOHP:0000749
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Sleep disturbanceHPOHP:0002360
- 2 of 2 reported patients
- HypothyroidismHPOHP:0000821
- 3 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.
- WDR4HGNC:12756
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2019
Where it sits
- A kind of