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Polymicrogyria
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain. Affected individuals ...
- Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the ... ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the ...
- ... such as those known as Chiari malformation and polymicrogyria. Abnormal brain development leads to intellectual disability in ... seizures or weak muscle tone (hypotonia). In particular, polymicrogyria is associated with speech delays and difficulty chewing ...
- Birth Disorders of the Brain and Spinal Cord
(National Institute of Neurological Disorders and Stroke)
Cerebellar Disorders/Specifics ... Cerebellar Disorders ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Craniofacial Abnormalities/Specifics ... Craniofacial ... - ... of the extraocular muscles (CFEOM) called CFEOM3 with polymicrogyria. Individuals with this condition are unable to move ... addition, affected individuals have a brain malformation called polymicrogyria, in which the surface of the brain develops ...
- ... identified in people with a severe form of polymicrogyria called bilateral frontoparietal polymicrogyria (BFPP). This disorder causes intellectual disability, delayed development, ...
- ... CCND2 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition affects ... megalencephaly) and a brain abnormality called bilateral perisylvian polymicrogyria (BPP). Some affected individuals also have an extra ...
- ... PIK3R2 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition affects ... to cause a brain abnormality called bilateral perisylvian polymicrogyria (BPP). The surface of the brain normally has ...
- ... particular form of CFEOM3, known as CFEOM3 with polymicrogyria, is characterized by abnormal development of the brain, ... mutation in the TUBB2B gene causes CFEOM3 with polymicrogyria; and mutations in the PHOX2A gene cause CFEOM2. ...
- ... AKT3 gene have been found to cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This rare condition affects ... GM. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab. 2015 Mar; ...