Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.

A, Cospain; E, Schaefer; M, Faoucher; C, Dubourg; W, Carré; V, Bizaoui; J, Assoumani; Maldergem L, Van; A, Piton; B, Gérard; Mau-Them F, Tran; AL, Bruel; L, Faivre; F, Demurger; L, Pasquier; S, Odent; M, Fradin; A, Lavillaureix

doi:10.1111/cge.13933

Public

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.

Shared by NobleBlocks on Feb 8, 2021 • 12:00 AM UTC

Authors:

Cospain A

Schaefer E

Faoucher M

Abstract

Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during inf...

Subject

Phenotype

Speech Therapy

Intellectual Disability

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