Rett syndrome
MONDO:0010726Mondo
Findings
No curated finding names Rett syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe neurodevelopmental disorder affecting the central nervous system.
Definition from the Mondo Disease Ontology (MONDO:0010726), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental regressionHPOHP:0002376
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Intermittent hyperventilationHPOHP:0004879
- 2 of 2 reported patients
- Motor deteriorationHPOHP:0002333
- 2 of 2 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 2 of 2 reported patients
- Stereotypical hand wringingHPOHP:0012171
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Loss of acquired spoken languageHPOHP:6001483
- 446 of 467 reported patients
Show the remaining 33
- Motor stereotypyHPOHP:0000733
- Very frequent (80% to 99% of cases)
- Progressive language deteriorationHPOHP:0007064
- Very frequent (80% to 99% of cases)
- Progressive microcephalyHPOHP:0000253
- Very frequent (80% to 99% of cases)
- Sleep disturbanceHPOHP:0002360
- 353 of 467 reported patients
- Occasional (5% to 29% of cases)
- ConstipationHPOHP:0002019
- 339 of 455 reported patients
- Feeding difficultiesHPOHP:0011968
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MECP2HGNC:6990
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2018
- Definitive · G2P · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: Rett syndrome
- Also called
- Rett syndrome, atypical, X-linked dominantRett syndrome, preserved speech variant, X-linked dominantRett syndrome, X-linked dominantRett’s diseaseRTSRTT