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Results 1 - 10 of 32 for Intellectual "disability," autosomal recessive 33
  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. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  3. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  4. Neuronal ceroid lipofuscinoses (NCL) 
    ... and recycle proteins. Lipofuscinoses are inherited as autosomal recessive traits. This means each parent passes on a nonworking copy of the gene for the child to develop the condition. Only one adult subtype of NCL is inherited as an autosomal dominant trait.
    https://medlineplus.gov/ency/article/001613.htm - Medical Encyclopedia
  5. Peters plus syndrome 
    ... Walker cyst and encephalocele. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13. Citation on PubMed
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  6. GJC2 gene 
    ... upper limbs (paraplegia), impaired speech (dysarthria), and mild intellectual ... methionine at position 33 in the protein (written as Ile33Met or I33M). ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  7. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Registry: Blepharophimosis - intellectual disability syndrome, SBBYS type ... distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  8. Ataxia with oculomotor apraxia 
    ... WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH ... in a family with ataxia and oculomotor apraxia. Hum Mutat. 2012 Feb;33(2):351-4. doi: 10.1002/humu.21650. ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  9. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... this condition typically have only mild to moderate intellectual disability.There are three types of megalencephalic leukoencephalopathy with ... type 2B usually have macrocephaly and may have intellectual disability. Megalencephalic leukoencephalopathy with subcortical cysts is a rare ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  10. GLUT1 deficiency syndrome 
    ... GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, ... but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
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