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Results 1 - 10 of 54 for Cerebellar hypoplasia
  1. VLDLR-associated cerebellar hypoplasia 
    VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  2. Lissencephaly with cerebellar hypoplasia 
    Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  3. CASK-related intellectual disability 
    ... has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH PubMed Burglen L, Chantot-Bastaraud S, Garel ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  4. Dandy-Walker malformation 
    ... the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  5. VLDLR gene 
    ... gene have been found to cause VLDLR-associated cerebellar hypoplasia. These mutations prevent cells from producing any functional ... brain that coordinates movement. People with VLDLR-associated cerebellar hypoplasia have an unusually small and underdeveloped cerebellum, which ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
  6. RELN gene 
    ... gene have been found to cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in ... in coordinating movements is unusually small and underdeveloped (cerebellar hypoplasia). The RELN gene variants that cause LCH lead ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  7. CASK gene 
    ... a severe form called microcephaly with pontine and cerebellar hypoplasia (MICPCH), and a milder form called X-linked ... with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99- ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  8. TUBA1A gene 
    ... gene have been found to cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in ... underdeveloped area of the brain called the cerebellum (cerebellar hypoplasia). The TUBA1A gene mutations that cause LCH change ...
    https://medlineplus.gov/genetics/gene/tuba1a - Genetics
  9. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... of the brain known as the cerebrum and cerebellum. Abnormalities can also be seen in other regions of ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  10. Chromosome 6 
    ... of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report ...
    https://medlineplus.gov/genetics/chromosome/6 - Genetics
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