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ARID1B

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Details physician

Details patient

Molecular and cytogenetic diagnosis

(including CNVs and structural chromosome anomalies identified by sequence-based methods such as array, WES and/or WGS)

Second mutation in case of recessive disorder:

General

Neurology




Facial abnormalities





Visual and hearing impairments



Heart


Gastrointestinal


Urogenital


Skeleton


Skin / hair / nails


Endocrine / immunological/ metabolic




Neoplasia


Inheritance

Other

Family details

Gene specific questions