Results 1 -
10
of
18
for
Cerebellar hypoplasia
- ... 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 ...
- ... 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 ...
- ... 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- ...
- ... 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 ...
- ... Minetti C, Santorelli FM. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol. 2013 ... the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and ... and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics. ...
- ... TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders ...
- ... TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because these disorders ...
- ... cells in the brain, particularly in the putamen, cerebellum, and white matter. Abnormalities in these brain regions underlie the movement, speech, ...
- ... neighboring genes have been associated with a structural abnormality of the cerebellum known as Dandy-Walker malformation. FKHL7 forkhead box ...
- ... 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 ...
