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GTR Home > Conditions/Phenotypes > Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome

Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome

Synonyms
GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW SYNDROME
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. [from SNOMEDCT_US]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DCR1, Dicer, Dicer1e, GLOW, HERNA, K12H4.8-LIKE, MNG1, RMSE2, aviD, DICER1
    Summary: dicer 1, ribonuclease III

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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