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Intellectual "disability," autosomal recessive 23
- ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
- ... 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 ...
- ... muscular dystrophy causes muscle weakness, brain abnormalities, and intellectual disability, but usually does not affect the eyes.POMT1 ... G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...
- ... symptoms of Pol III-related leukodystrophy, which include intellectual disabilities and difficulty with coordination and balance (ataxia). Development ...
