KEGG DISEASE: Ververi-Brady syndrome

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

(VERBRAS1) QRICH1 [HSA:54870] [KO:K24297]
(VERBRAS2) SEPHS1 [HSA:22929] [KO:K01008]

Other DBs

ICD-11:

LD90.Y

MeSH:

D065886

OMIM:

617982 621325

Reference

PMID:28692176 (VERBRAS1)

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

Reference

PMID:38531365 (VERBRAS2)

Authors

Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonovic M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J

Title

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Journal

Am J Hum Genet 111:778-790 (2024)
DOI:10.1016/j.ajhg.2024.02.016

LinkDB

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