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Intellectual "disability," autosomal recessive 33
- ... upper limbs (paraplegia), impaired speech (dysarthria), and mild intellectual ... methionine at position 33 in the protein (written as Ile33Met or I33M). ...
- ... abnormalities, such as brain or eye malformations and intellectual disability, are more common in DOCK6-related Adams-Oliver ... M. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain ...