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Results 1 - 10 of 14 for Intellectual "disability," autosomal recessive 53
  1. Mabry syndrome 
    ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  2. ASPM gene 
    ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
    https://medlineplus.gov/genetics/gene/aspm - Genetics
  3. Charcot-Marie-Tooth disease 
    ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  4. UNC80 deficiency 
    ... UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015- ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  5. UNC80 gene 
    ... UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015- ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  6. Nonketotic hyperglycinemia 
    ... unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  7. Polymicrogyria 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  8. Tyrosinemia 
    ... with tyrosinemia type II have some degree of intellectual disability.Tyrosinemia type III is the rarest of the ... types. The characteristic features of this type include intellectual disabilities, seizures, and periodic loss of balance and coordination ( ...
    https://medlineplus.gov/genetics/condition/tyrosinemia - Genetics
  9. Mucolipidosis type IV 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv - Genetics
  10. Fryns syndrome 
    ... these children have had severe developmental delay and intellectual disability. The worldwide incidence of Fryns syndrome is unknown. ... Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
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