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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease rett syndrome
Comorbidity C0004936|mental disorders
Sentences 2
PubMedID- 23671101 The x-linked gene cyclin-dependent kinase-like 5 (cdkl5) is mutated in severe neurodevelopmental disorders, including some forms of atypical rett syndrome, but the function and regulation of cdkl5 protein in neurons remain to be elucidated.
PubMedID- 24891698 Among other pervasive developmental disorders, children with rett syndrome have been shown to benefit from music therapy in terms of indulgence in music, minute motion, language, personal relation and sociality.

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