Synonyms: BOS syndrome, Bohring syndrome, C-like syndrome, Oberklaid-Danks syndrome, Opitz trigonocephaly-like syndrome

HGNC Approved Gene Symbol: ASXL1 (responsible gene for Bohring-Opitz syndrome)

Cytogenetic location: 20q11.21 (genes position on chromosome)

Genomic coordinates (GRCh38): 20:32,358,061-32,439,318 (from NCBI)

ORPHA: 97297 (The portal for rare diseases and orphan drugs)

ICD-10: Q87.8 (Diagnosis Codes – International Classification of Diseases – Medical Diagnosis Codes)

OMIM: 605039 (Online Mendelian Inheritance in Man)

UMLS: C0796232 (Unified Medical Language System)

GARD: 10140 (Genetic and Rare Diseases Information Center)

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