KEGG   DISEASE: Intellectual developmental disorder with short stature, facial anomalies, and speech defects
Entry
H02346                      Disease                                

Name
Intellectual developmental disorder with short stature, facial anomalies, and speech defects
Description
Intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) is a syndromic autosomal recessive developmental delay and intellectual disability. It has been reported mutations in FBXL3 cause this disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02346  Intellectual developmental disorder with short stature, facial anomalies, and speech defects
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02346  Intellectual developmental disorder with short stature, facial anomalies, and speech defects
Pathway
hsa04710 Circadian rhythm   
Gene
FBXL3 [HSA:26224] [KO:K10269]
Other DBs
ICD-11: LD90.Y
ICD-10: Q89.8
OMIM: 606220
Reference
  Authors
Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE
  Title
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
  Journal
Hum Mol Genet 28:972-979 (2019)
DOI:10.1093/hmg/ddy406
Reference
  Authors
Godinho SI, Maywood ES, Shaw L, Tucci V, Barnard AR, Busino L, Pagano M, Kendall R, Quwailid MM, Romero MR, O'neill J, Chesham JE, Brooker D, Lalanne Z, Hastings MH, Nolan PM
  Title
The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period.
  Journal
Science 316:897-900 (2007)
DOI:10.1126/science.1141138

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