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Intellectual "disability," autosomal recessive 63
- ... other features of SPENCDI, including movement disorders and intellectual disability, is currently unknown. ACP5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... Genetic ...
- ... myelin can lead to neurological problems such as intellectual disability and walking difficulties. The cause of the eye ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis. 2004;27(4):455-63. doi: 10.1023/B:BOLI.0000037349.08483.96. ...
- ... Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg.b.30392. Citation ... recessive lissencephaly with cerebellar hypoplasia is associated with human ...
- ... unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/ ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... most often in people with dihydropyrimidinase deficiency are intellectual disability, seizures, and weak muscle tone (hypotonia). An abnormally ... disorder. DPYS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the ... mutations. POR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial ...
