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Intellectual "disability," autosomal recessive 11
- ... with this condition lead to delayed development and intellectual disability, which is most often moderate to severe. Some ... KIF7 gene mutations, it is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems ... and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. Classic galactosemia occurs ...
- ... and go over time. Some affected children experience intellectual disability or delayed development. In children with this later- ... PCCA PCCB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... the first year of life. Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, ... IV. MCOLN1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically ... CCFDN. CTDP1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals ...
- ... difficulty swallowing (dysphagia), vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, ... gangliosidosis. HEXA This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia). GPI deficiency ...
- ... stressors. They may also have delayed development and intellectual disability.In some people with carbamoyl phosphate synthetase I ... deficiency. CPS1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and ... brain. GAMT This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
