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Results 21 - 30 of 95 for Intellectual "disability," autosomal recessive 11
  1. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Registry: Blepharophimosis - intellectual disability syndrome, SBBYS type ... clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  2. What Are the Types and Symptoms of Muscular Dystrophy (MD)? From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes ...
    https://www.nichd.nih.gov/.../topics/musculardys/conditioninfo/types - External Health Links
  3. ACAD9 deficiency 
    ... can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of ... deficiency who survive past early childhood often have intellectual disability and may develop seizures. Rare signs and symptoms ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  4. Peters plus syndrome 
    ... Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although ... physical features does not predict the level of intellectual disability.Less common signs and symptoms of Peters plus ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  5. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. In most affected children, a substance called methylmalonic ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  6. Spastic paraplegia type 15 
    ... of weak muscle tone (hypotonia), difficulty walking, or intellectual disability. In almost all affected individuals, the tissue connecting ... 15. ZFYVE26 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  7. Carpenter syndrome 
    ... pinky) finger.People with Carpenter syndrome often have intellectual disability, which can range from mild to profound. However, ... this condition have normal intelligence. The cause of intellectual disability is unknown, as the severity of craniosynostosis does ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - 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. Argininosuccinic aciduria 
    ... from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, high blood pressure (hypertension), skin ...
    https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria - Genetics
  10. Sialidosis 
    ... dysostosis multiplex, "coarse" facial features, short stature, and intellectual disability. As children with infantile sialidosis type II get ... features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark red spots on the skin (angiokeratomas). ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
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