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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-08-2017
Location 1q42.11
Name Skraban-Deardorff syndrome
Corresponding gene WDR26
Main clinical features
  • syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip
  • developmental delay ranges from mild to severe, and all individuals have delayed speech, and wide-based, spastic, hemiparetic, and/or stiff-legged gait
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type MCA/MR
  • missense variants identified in these individuals localize to highly conserved residues of this WD-40-repeat-containing protein (PMID: 28686853))
  • WDR26 missense variants could alter protein stability and also lead to reduced function in a manner consistent with deletion and loss-of-function alleles (PMID: 28686853))