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Skraban-Deardorff syndrome(SKDEAS)

MedGen UID:
1627555
Concept ID:
C4539927
Disease or Syndrome
Synonym: INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES
SNOMED CT: Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (1177167002); Skraban Deardorff syndrome (1177167002)
 
WDR26 (1q42.11-42.12)
 
Monarch Initiative: MONDO:0054636
OMIM®: 617616
Orphanet: ORPHA513456
Authors:

Additional description

From OMIM
Skraban-Deardorff syndrome is a 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 (summary by Skraban et al., 2017).  http://www.omim.org/entry/617616

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSkraban-Deardorff syndrome

Professional guidelines

PubMed

David D, Freixo JP, Fino J, Carvalho I, Marques M, Cardoso M, Piña-Aguilar RE, Morton CC
Hum Genet 2020 Apr;139(4):531-543. Epub 2020 Feb 6 doi: 10.1007/s00439-020-02121-x. PMID: 32030560Free PMC Article

Recent clinical studies

Diagnosis

Hu J, Xu M, Zhu X, Zhang Y
Genes (Basel) 2022 May 2;13(5) doi: 10.3390/genes13050813. PMID: 35627197Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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