global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
MONDO:0018445Mondo
Findings
No curated finding names global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Typified by somatic mosaicism
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
21 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.
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 2 reported patients
- NephroblastomaHPOHP:0002667
- 2 of 2 reported patients
- OvergrowthHPOHP:0001548
- 2 of 2 reported patients
- Pulmonary cystHPOHP:0032445
- 2 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
- AutismHPOHP:0000717
- 1 of 2 reported patients
- Enlarged kidneyHPOHP:0000105
- 1 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 2 reported patients
Show the remaining 9
- KyphosisHPOHP:0002808
- 1 of 2 reported patients
- Large for gestational ageHPOHP:0001520
- 1 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 2 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 2 reported patients
- Preauricular pitHPOHP:0004467
- 1 of 2 reported patients
- Protuberant abdomenHPOHP:0001538
- 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.
- DICER1HGNC:17098
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
5 names
Resolves to: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
- Also called
- global developmental delay, lung cysts, overgrowth, and wilms tumorglobal developmental delay, lung cysts, overgrowth, and wilms tumourGLOWglow syndromeGLOW syndrome, somatic mosaic