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Results 1 - 10 of 34 for Cerebellar agenesis
  1. 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
  2. Joubert syndrome 
    ... cannot pass X-linked traits to their sons. Agenesis of cerebellar vermis Cerebello-oculo-renal syndrome Cerebellooculorenal syndrome 1 ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... the back of the brain known as the cerebellar vermis. Eye abnormalities that can occur include a gap or hole ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
  4. MN1 C-terminal truncation syndrome 
    ... and fusion of the two sides of the cerebellum. These brain abnormalities likely contribute to the movement problems and intellectual ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  5. Primary coenzyme Q10 deficiency 
    ... the brain that is involved in coordinating movement (cerebellum). Other neurological abnormalities that can occur in primary coenzyme Q10 deficiency ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  6. TUBB4A-related leukodystrophy 
    ... cells in the brain, particularly in the putamen, cerebellum, and white matter. Abnormalities in these brain regions underlie the movement, speech, ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  7. Gillespie syndrome 
    ... in Gillespie syndrome result from hypoplasia of the cerebellum, which is the part of the brain that coordinates movement. This abnormality can cause hypotonia and delayed development of motor ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  8. 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
  9. Dyskeratosis congenita 
    ... affected individuals have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  10. Walker-Warburg syndrome 
    ... buildup of fluid in the brain (hydrocephalus) or abnormalities of certain parts of the brain, including a region called the cerebellum and the part of the brain that connects ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
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