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Results 1 - 10 of 959 for Cerebral hypoplasia
  1. MN1 C-terminal truncation syndrome 
    ... intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.Most people with MCTT syndrome have mild to ... craniosynostosis). People with MCTT syndrome often have characteristic brain abnormalities. The surface of the brain normally has many ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  2. Acrocallosal syndrome 
    ... syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence ... the early stages of development before birth. Other brain abnormalities, including the growth of large cysts in brain ...
    https://medlineplus.gov/genetics/condition/acrocallosal-syndrome - Genetics
  3. Desmosterolosis 
    ... that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other ... limited to a few words or phrases. Common brain abnormalities in desmosterolosis include malformation of the tissue that ...
    https://medlineplus.gov/genetics/condition/desmosterolosis - Genetics
  4. FOXG1 syndrome 
    ... a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their ... before birth, which appears to underlie the structural brain abnormalities and severe developmental problems characteristic of FOXG1 syndrome. ...
    https://medlineplus.gov/genetics/condition/foxg1-syndrome - Genetics
  5. Nonsyndromic holoprosencephaly 
    ... is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  6. Coats plus syndrome 
    ... loss.People with Coats plus syndrome also have brain abnormalities including abnormal deposits of calcium (calcification), the development ... brain tissue known as white matter (leukodystrophy). These brain abnormalities worsen over time, causing slow growth, movement disorders, ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  7. FKRP gene 
    ... that this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ... dystrophy type 1C (MDC1C), which causes muscle weakness, brain abnormalities, and intellectual disability but usually does not affect ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  8. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 
    ... life. MPPH syndrome is also associated with a brain abnormality called bilateral perisylvian polymicrogyria (BPP). The surface of ... the folds are irregular and unusually small. Other brain abnormalities, including a buildup of fluid in the brain ( ...
    https://medlineplus.gov/...ogyria-polydactyly-hydrocephalus-syndrome - Genetics
  9. YWHAE gene 
    ... tone (hypotonia), developmental delays, delayed speech, seizures, and brain abnormalities. 14-3-3 epsilon 14-3-3E HEL2 ... of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 Jul; ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  10. Pontocerebellar hypoplasia 
    ... overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some ... and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
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