KEGG   DISEASE: Pilarowski-Bjornsson syndrome
Entry
H02507                      Disease                                
Name
Pilarowski-Bjornsson syndrome
Description
Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense mutations in the chromatin remodeler CHD1 are associated with PILBOS.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A02  Autism spectrum disorder
    H02507  Pilarowski-Bjornsson syndrome
Gene
CHD1 [HSA:1105] [KO:K11367]
Other DBs
ICD-11: 6A02.3
ICD-10: F84.9
OMIM: 617682
Reference
PMID:28866611
  Authors
Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT
  Title
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
  Journal
J Med Genet 55:561-566 (2018)
DOI:10.1136/jmedgenet-2017-104759
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