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Okihiro syndrome due to 20q13 microdeletion

MedGen UID:
1826026
•Concept ID:
C5679682
•
Disease or Syndrome
Synonyms: Duane-radial ray syndrome due to monosomy 20q13; Okihiro syndrome due to del(20)(q13); Okihiro syndrome due to monosomy 20q13
 
Monarch Initiative: MONDO:0016863
Orphanet: ORPHA261638

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOkihiro syndrome due to 20q13 microdeletion

Recent clinical studies

Diagnosis

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
Borozdin W, Graham JM Jr, Böhm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J
Hum Mutat 2007 Aug;28(8):830. doi: 10.1002/humu.9502. PMID: 17623483

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