Disease Information for Rett's syndrome: Disease Mechanism & Classification

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Class
CLASS/Pediatric disorders (ex)
CLASS/Brain/CNS disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene locus Chromosome Xq
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq28
Pathophysiology/Gene locus Xq28 MECP2 mutation
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Protein 2 (MeCP2) Gene
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Atypical Brain Glycolipids
Pathophysiology/Congenital Brain malformation
Pathophysiology/Developmental microcephaly
Pathophysiology/Pontine Noradrenergic Deficit
Pathophysiology/Reduction in Substance P CNS
Pathophysiology/Gene mutation CDKL5
Pathophysiology/Gene mutation FOXG1
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Congenital CNS disorder (ex)
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