atypical Rett syndrome
Findings
No curated finding names atypical Rett syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).
Definition from the Mondo Disease Ontology (MONDO:0017746), read 2026-09-29. CC BY 4.0.
Features
53 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.
- Abnormal pattern of respirationHPOHP:0002793
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- AgitationHPOHP:0000713
- Very frequent (80% to 99% of cases)
- Autistic behaviorHPOHP:0000729
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Functional motor deficitHPOHP:0004302
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Involuntary movementsHPOHP:0004305
- Very frequent (80% to 99% of cases)
- Loss of speechHPOHP:0002371
- Very frequent (80% to 99% of cases)
Reported absent (1)
- Total ophthalmoplegiaHPOHP:0007824
Show the remaining 41
- Reduced eye contactHPOHP:0000817
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Sleep disturbanceHPOHP:0002360
- Very frequent (80% to 99% of cases)
- Stereotypical hand wringingHPOHP:0012171
- Very frequent (80% to 99% of cases)
- Abnormal muscle toneHPOHP:0003808
- Frequent (30% to 79% of cases)
- ApraxiaHPOHP:0002186
- Frequent (30% to 79% of cases)
Genes
6 genes
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.
- CDKL5HGNC:11411
- Supportive · Orphanet · Autosomal dominant · 2021
- GABBR2HGNC:4507
- Supportive · Orphanet · Autosomal dominant · 2021
- MECP2HGNC:6990
- Supportive · Orphanet · Autosomal dominant · 2021
- NTNG1HGNC:23319
- Supportive · Orphanet · Autosomal dominant · 2021
- SMC1AHGNC:11111
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: atypical Rett syndrome
- Also called
- atypical RTTRett syndrome variant