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Results 1 - 10 of 49 for Intellectual "disability," autosomal recessive 19
  1. Cutis laxa 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  2. Osteopetrosis 
    ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  3. Aromatic l-amino acid decarboxylase deficiency 
    ... these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal movements, and autonomic nervous system dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  4. 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
  5. Cerebro-facio-thoracic dysplasia 
    ... Disorders (NORD) CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, ... B, Boduroglu K, Akarsu NA. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  6. Lissencephaly with cerebellar hypoplasia 
    ... of migration disorders. Curr Opin Neurol. 2006 Apr;19(2):135-40. doi: 10.1097/01.wco.0000218228.73678.e1. Citation on PubMed Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  7. Centronuclear myopathy 
    ... j.ajhg.2012.06.012. Epub 2012 Jul 19. Citation on PubMed or Free article on ... cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9): ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  8. 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
  9. Peters plus syndrome 
    ... the mouth (cleft palate), distinctive facial features, and intellectual disability.The eye problems in Peters plus syndrome occur ... Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  10. Perrault syndrome 
    ... problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and ... LARS2 TWNK This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
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