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Intellectual "disability," autosomal recessive 47
- ... these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal movements, and autonomic nervous system dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... X-linked Ohdo syndrome Genetic Testing Registry: ... HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. Am J Med Genet. 1993 Nov 1;47(6):901-6. doi: 10.1002/ajmg.1320470618. ...
- ... mutations cause this condition. connexin-46.6 connexin-47 CX46.6 Cx47 gap junction alpha-12 protein gap ... NCBI Gene ClinVar Gotoh L, Inoue K, ...
- ... can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of ... deficiency who survive past early childhood often have intellectual disability and may develop seizures. Rare signs and symptoms ...
- ... seen in some individuals with this type include intellectual disabilities, hearing loss, and a cherry-red spot. Children ... coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and intellectual disabilities that worsen over time. People with this form ...
- ... 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 people with Aicardi-Goutières syndrome have profound intellectual disabilities. Affected babies are usually extremely irritable and do ... In most cases, it is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 ... deficiency. ACY1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... body systems.Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many ... tissues. ALG1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... dysfunction. SERAC1 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 ...
