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
Gait disturbance
Very frequent (80-99%)HP:0001288
High-pitched cry
Very frequent (80-99%)HP:0025430
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental deterioration in childhood
Very frequent (80-99%)HP:0002376
Microcephaly, progressive
Very frequent (80-99%)HP:0000253
Nonverbal
Very frequent (80-99%)HP:0001344
Progressive language deterioration
Very frequent (80-99%)HP:0007064
Stereotypical hand wringing
Very frequent (80-99%)HP:0012171
Stimming
Very frequent (80-99%)HP:0000733
Abnormal muscle tone
Frequent (30-79%)HP:0003808
Bruxism
Frequent (30-79%)HP:0003763
Cool skin temperature
Frequent (30-79%)HP:0033850
Dystonic movements
Frequent (30-79%)HP:0001332
Epilepsy
Frequent (30-79%)HP:0001250
Growth deficiency
Frequent (30-79%)HP:0001510
Limb apraxia
Frequent (30-79%)HP:0030217
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
Slowness of movements
Frequent (30-79%)HP:0002067
Undergrowth
Frequent (30-79%)HP:0001508
Abnormal pyruvate-family amino acid levels in cerebrospinal fluid
Occasional (5-29%)HP:0500231
Agitation
Occasional (5-29%)HP:0000713
Autonomic dysregulation
Occasional (5-29%)HP:0012332
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Elevated circulating leptin level
Occasional (5-29%)HP:0031793
Gallbladder inflammation
Occasional (5-29%)HP:0001082
High blood ammonia levels
Occasional (5-29%)HP:0001987
Related Conditions
System disorder of the nervous system(parent)
Pervasive developmental disorder(parent)
Chronic brain syndrome(parent)
Chronic mental illness(parent)
X-linked dominant hereditary disease(parent)
Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 68618008
- UMLS CUI
- C0035372
- Fully Specified Name
- 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.