X-linked neurodevelopmental disorder with regression after normal early development.
- Specialty
- Neurology
- Subspecialty
- Neurology / Pediatric neurology; Neurogenetics
- Sex & age distribution
- Male: affected, rare and often severe (neonatal encephalopathy); Female: affected, nearly all; Children: yes, regression at 6–18 months
- Gene(s) involved
- CDKL5, FOXG1, MECP2
- Alternative names & eponyms
- Rett disorder
Etiology & mechanism
MECP2 loss of function.
Gene(s) involved (3)
Symptoms & signs (6)
In plain terms, someone with Rett syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
2 shared
Sotos syndrome
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seizures
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Angelman syndrome
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Borjeson–Forssman–Lehmann syndrome
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Cardiofaciocutaneous syndrome
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Cerebral folate deficiency syndrome
seizures
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Cerebral hyperperfusion syndrome
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Shares genes with
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