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GENATLAS PHENOTYPE

last update : 17-03-2021

Symbol	IDBDD
Location	Xq26.1
Name	intellectual disability, behavioral difficulties, and dysmorphic features
Other name(s)	Shukla-Vernon syndrome
Corresponding gene	BCORL1
Main clinical features	X‐linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers; often seizures and/or cerebellar atrophy on brain imaging
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Remark(s)

hemizygous pathogenic variants in BCORL1 underlie a newly identified X-linked epigenetic syndrome (PMID: 30941876))