KEGG   DISEASE: Skraban-Deardorff syndrome
Entry
H02337                      Disease                                
Name
Skraban-Deardorff syndrome
Description
Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease.
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
   H02337  Skraban-Deardorff syndrome
Gene
WDR26 [HSA:80232] [KO:K22382]
Other DBs
ICD-11: LD90.Y
OMIM: 617616
Reference
PMID:28686853
  Authors
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA
  Title
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
  Journal
Am J Hum Genet 101:139-148 (2017)
DOI:10.1016/j.ajhg.2017.06.002
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