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Intellectual "disability," autosomal recessive 12
- ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
- ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Citation on PubMed ...
- ... connexin-47 CX46.6 Cx47 gap junction alpha-12 protein gap junction gamma-2 protein gap junction protein, gamma 2, 47kDa GJA12 ... NCBI Gene ClinVar Gotoh L, Inoue K, ...
- ... doi: 10.1074/jbc.M601091200. Epub 2006 May 12. Citation on PubMed Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...
- ... UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by ... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98( ...
- ... 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 ...
- ... symptoms of Pol III-related leukodystrophy, which include intellectual disabilities and difficulty with coordination and balance (ataxia). Development ...
