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Rett syndrome | RareConnect | RareConnect.io

/pervasive developmental disorder

/syndromic disease

/Mendelian neurodevelopmental disorder

/Rett syndrome

Rett syndrome

Rare Disease

MONDO:0010726

Also Known As

RTSRTTRett syndromeRett syndrome, X-linked dominantRett syndrome, atypical, X-linked dominantRett syndrome, preserved speech variant, X-linked dominantRett's disorderRett’s diseasecerebroatrophic hyperammonemiaRett syndrome, Zappella variantRett syndrome, atypicalRett syndrome, preserved speech variantautism, dementia, ataxia, and loss of purposeful hand use

Definition

A severe neurodevelopmental disorder affecting the central nervous system.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:312750 ↗

Orphanet

Orphanet:778 ↗

GARD

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