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Results 1 - 10 of 15 for Cerebellar agenesis
  1. TUBB4A gene 
    ... cells in the brain, particularly in the putamen, cerebellum, and white matter. Abnormalities in these brain regions underlie the movement, speech, ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  2. FOXC1 gene 
    ... neighboring genes have been associated with a structural abnormality of the cerebellum known as Dandy-Walker malformation. FKHL7 forkhead box ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  3. WASHC5 gene 
    ... syndrome because it affects craniofacial (head and face), cerebellar (brain), and cardiovascular (heart) development. People with 3C syndrome often have Dandy-Walker malformation, which is a structural abnormality of the part of the brain that coordinates ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  4. DNMT1 gene 
    ... with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include difficulty coordinating movements (ataxia), hearing loss caused by abnormalities of the inner ear (sensorineural deafness), and excessive ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics
  5. TUBB2B gene 
    ... halves of the brain (schizencephaly); or other cortical abnormalities. In some affected individuals, a region of the brain called the cerebellum is particularly affected (cerebellar dysplasia). It is thought ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  6. ATP1A3 gene 
    ... a malfunctioning Na+/K+ ATPase causes the movement abnormalities seen in people with rapid-onset dystonia parkinsonism. More About This Health Condition Variants in the ATP1A3 gene can cause a group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  7. FKRP gene 
    ... S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular ... and small cerebellum prompt diagnosis of congenital muscular dystrophy due to ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  8. EXOSC3 gene 
    ... of certain areas of the brain, particularly the cerebellum, which is the part of the brain that ... Minetti C, Santorelli FM. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol. ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  9. POLR3A gene 
    ... TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). ... been found in individuals with ataxia and dental abnormalities. Unlike in Pol III-related leukodystrophy (described above), ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  10. POLR3B gene 
    ... TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). ... cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
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