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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 ...
- ... 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 ...
- ... lysosomes. CTSA This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... they already developed. Individuals with MEGDEL syndrome have intellectual disability and never learn to speak.People with MEGDEL ... dysfunction. SERAC1 This condition 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 ...
- ... tissues. ALG1 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 ...
