... addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...

... reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. ... 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 ...

... generalized lipodystrophy type 2 is sometimes associated with intellectual disability.In some people with congenital generalized ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... 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 ...

... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... Finnish type National Organization for Rare Disorders ( ...

... for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 PubMed Denora PS, Schlesinger D, Casali C, ...

... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Citation on PubMed ...

... for Rare Disorders (NORD) ClinicalTrials.gov SEGAWA SYNDROME, AUTOSOMAL RECESSIVE PubMed Furukawa Y, Kish S. Tyrosine Hydroxylase Deficiency. 2008 Feb 8 [updated 2017 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...

... Rare Disorders (NORD) ClinicalTrials.gov ... JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...