Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Episodic hyperventilation
Always present (100%)HP:0004879
Intellectual disability, profound
Always present (100%)HP:0002187
Progressive degeneration of movement
Always present (100%)HP:0002333
Abnormal respiratory patterns
Very frequent (80-99%)HP:0002793
Abnormality of movement
Very frequent (80-99%)HP:0100022
Agitation
Very frequent (80-99%)HP:0000713
ASD
Very frequent (80-99%)HP:0000729
Epilepsy
Very frequent (80-99%)HP:0001250
Feeding difficulties
Very frequent (80-99%)HP:0011968
Functional motor deficit
Very frequent (80-99%)HP:0004302
Gait disturbance
Very frequent (80-99%)HP:0001288
Involuntary movements
Very frequent (80-99%)HP:0004305
Loss of acquired milestones
Very frequent (80-99%)HP:0002376
Loss of speech
Very frequent (80-99%)HP:0002371
Mental deficiency
Very frequent (80-99%)HP:0001249
Poor eye contact
Very frequent (80-99%)HP:0000817
Stereotypical hand wringing
Very frequent (80-99%)HP:0012171
Trouble sleeping
Very frequent (80-99%)HP:0002360
Abnormal muscle tone
Frequent (30-79%)HP:0003808
Apraxia
Frequent (30-79%)HP:0002186
Central hypotonia
Frequent (30-79%)HP:0001252
Disproportionately small hands
Frequent (30-79%)HP:0200055
Dystonic disease
Frequent (30-79%)HP:0001332
Episodic tachypnea
Frequent (30-79%)HP:0002876
Functional abnormality of the gastrointestinal tract
Frequent (30-79%)HP:0012719
Hand apraxia
Frequent (30-79%)HP:0032588
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Inability to walk
Frequent (30-79%)HP:0002540
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Loss of ambulation
Frequent (30-79%)HP:0002505
Quick Facts
- SNOMED CT
- 718393002
- UMLS CUI
- C2748910
- Fully Specified Name
- Atypical Rett syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.