KEGG   DISEASE: Ververi-Brady syndrome
Entry
H02363                      Disease                                
Name
Ververi-Brady syndrome
Description
Ververi-Brady syndrome (VERBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that mutations in QRICH1 cause VERBRAS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02363  Ververi-Brady syndrome
Gene
QRICH1 [HSA:54870] [KO:K24297]
Other DBs
ICD-11: LD90.Y
MeSH: D065886
OMIM: 617982
Reference
  Authors
Lui JC, Jee YH, Lee A, Yue S, Wagner J, Donnelly DE, Vogt KS, Baron J
  Title
QRICH1 mutations cause a chondrodysplasia with developmental delay.
  Journal
Clin Genet 95:160-164 (2019)
DOI:10.1111/cge.13457
Reference
  Authors
Ververi A, Splitt M, Dean JCS, Brady AF
  Title
Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
  Journal
Clin Genet 93:286-292 (2018)
DOI:10.1111/cge.13096
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