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Results 1 - 10 of 29 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Chromosome 1 
    ... The signs and symptoms of this disorder include intellectual disabilities, distinctive facial features, and structural abnormalities in several ... 1 microdeletion. Related features can include delayed development, intellectual ... abnormalities, and neurological and psychiatric problems; however, ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  9. Septo-optic dysplasia 
    ... are affected, abnormal brain development can lead to intellectual disability and other neurological problems.The third major feature ... families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  10. Bardet-Biedl syndrome 
    ... the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. ... Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
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