Bohring–Opitz syndrome · Medical condition · YYNN

Bohring–Opitz syndrome

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Medical condition

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Subject of
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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

scientific article published on 23 February 2017

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Bohring–Opitz syndrome (BOS) is a genetic disorder caused by mutations in the ASXL1 gene.

Instance of

developmental defect during embryogenesis

class of disease

Subclass of

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

genetic syndromic intellectual disability

Wikidata