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Results 1 - 10 of 10 for Intellectual developmental "disorder," autosomal recessive 79
  1. Spastic paraplegia type 49 
    ... recessive spastic paraplegia type 49 Spastic paraplegia 49, autosomal recessive SPG49 ... Covone AE, Fiorillo C, Acquaviva ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
  2. Nonketotic hyperglycinemia 
    ... is 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
  3. Guanidinoacetate methyltransferase deficiency 
    ... CD. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol. 2014 Jul;34(3):350-6. ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  4. Infantile neuroaxonal dystrophy 
    ... involved. PLA2G6 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 ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  5. Ornithine translocase deficiency 
    ... disorders. SLC25A15 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 ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  6. CLN3 disease 
    ... lysosomes. CLN3 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 ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  7. CLN5 disease 
    ... life. CLN5 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 ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  8. Peters plus syndrome 
    ... features. B3GLCT 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 ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  9. CLN1 disease 
    ... life. PPT1 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 ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  10. CLN6 disease 
    ... adults. CLN6 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 ...
    https://medlineplus.gov/genetics/condition/cln6-disease - Genetics