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Intellectual "disability," autosomal recessive 52
- ... may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... Horn D, Mundlos S. Complex inheritance pattern resembling autosomal recessive ... Pediatr (Phila). 2013 Oct;52(10):985-7. doi: 10.1177/0009922812456593. Epub ...
- ... respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.People with this condition ... affected children and adults have mild to moderate intellectual disability.Most affected woman have premature ovarian failure and ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... CLPB deficiency include epilepsy and mild to severe intellectual disability. Neutropenia in these individuals can lead to recurrent ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum ...
- ... apraxia, but some people with the condition have intellectual disability. Ataxia with oculomotor apraxia is a rare condition. ... types of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... dysostosis multiplex, "coarse" facial features, short stature, and intellectual disability. As children with infantile sialidosis type II get ... features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark red spots on the skin (angiokeratomas). ...
- ... 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 ...
- ... HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a gene in ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... families, GLUT1 deficiency syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
