| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 89 (4.0%) |
2108956 |
Two sisters with Rett syndrome. Haenggeli CA, Moura-Serra J, DeLozier-Blanchet CD. J Autism Dev Disord. 1990;20(1):129-38. |
| Seizure | ||
| Adult Child Child Development Child, Preschool Electroencephalography Females Follow-Up Studies Homo sapiens Infant Psychomotor Performance Rett Syndrome Stereotyped Behavior Tonic-Clonic Epilepsy | ||
| 89 (4.0%) |
2063999 |
A case of the Rett syndrome with acute encephalopathy induced during calcium hopantenate treatment. Sasaki T, Minagawa M, Yamamoto T, Ichihashi H. Brain Dev. 1991;13(1):52-5. |
| Autistic behavior | ||
| Acute Disease Blood Glucose Brain Diseases Carboxylic Acids Child, Preschool Females Homo sapiens Intellectual Disability Rett Syndrome | ||
| 89 (4.0%) |
2056999 |
[Chilaiditi's colon interposition in a patient with Rett syndrome]. Sperl W, Fischer H, Hager J. Monatsschr Kinderheilkd. 1991;139(3):157-9. |
| Hyperventilation | ||
| Child Colonic Diseases Constipation Females Homo sapiens Intestinal Obstruction Liver Repeat Surgery Respiratory Diaphragm Rett Syndrome | ||
| 89 (4.0%) |
1810160 |
The Rett syndrome: the first case report from Pakistan. Hussain A, Khan MA, Qazi SA, Rehman GN. Brain Dev. 1991;13(6):442-4. |
| Seizure | ||
| Child Females Homo sapiens Pakistan Rett Syndrome | ||
| 89 (4.0%) |
1298942 |
[Rett's syndrome: description of a case with abnormal respiratory pattern]. Pertile N, Vergerio A, Galliani E, Turrin A, Caddia V, Rasori E. Pediatr Med Chir. 1992;14(6):647-50. |
| Dementia | ||
| Apnea Blood Gas Analysis Females Homo sapiens Hyperventilation Rett Syndrome Sleep | ||
| 89 (4.0%) |
1283671 |
Rett syndrome in South Africa. Moodley M. Ann Trop Paediatr. 1992;12(4):409-15. |
| Dementia | ||
| Child Child, Preschool Females Homo sapiens India Rett Syndrome South Africa |
Total: 39
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0000733 | Stereotypy | Very frequent (99-80%) |
| HP:0000929 | Abnormal skull morphology | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0002186 | Apraxia | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0002357 | Dysphasia | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0100022 | Abnormality of movement | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000716 | Depressivity | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001332 | Dystonia | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0001063 | Acrocyanosis | Occasional (29-5%) |
| HP:0001324 | Muscle weakness | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001786 | Narrow foot | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002308 | Arnold-Chiari malformation | Occasional (29-5%) |
| HP:0002376 | Developmental regression | Occasional (29-5%) |
| HP:0002445 | Tetraplegia | Occasional (29-5%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (29-5%) |
| HP:0003199 | Decreased muscle mass | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0004374 | Hemiplegia/hemiparesis | Occasional (29-5%) |
| HP:0009738 | Abnormality of the antihelix | Occasional (29-5%) |
| HP:0011675 | Arrhythmia | Occasional (29-5%) |
| HP:0012742 | Thin fingernail | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | Occasional (29-5%) |
Total: 72
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 28 |
| HP:0000252 | Microcephaly | 15 |
| HP:0000717 | Autism | 13 |
| HP:0000733 | Stereotypy | 9 |
| HP:0002650 | Scoliosis | 9 |
| HP:0000726 | Dementia | 8 |
| HP:0000729 | Autistic behavior | 8 |
| HP:0001298 | Encephalopathy | 8 |
| HP:0002883 | Hyperventilation | 7 |
| HP:0002376 | Developmental regression | 6 |
| HP:0001249 | Intellectual disability | 5 |
| HP:0001251 | Ataxia | 5 |
| HP:0025356 | Psychomotor retardation | 4 |
| HP:0200134 | Epileptic encephalopathy | 4 |
| HP:0005484 | Postnatal microcephaly | 3 |
| HP:0001257 | Spasticity | 2 |
| HP:0001263 | Global developmental delay | 2 |
| HP:0001332 | Dystonia | 2 |
| HP:0002019 | Constipation | 2 |
| HP:0002104 | Apnea | 2 |
| HP:0002186 | Apraxia | 2 |
| HP:0002448 | Progressive encephalopathy | 2 |
| HP:0000211 | Trismus | 1 |
| HP:0000253 | Progressive microcephaly | 1 |
| HP:0000297 | Facial hypotonia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000735 | Impaired social interactions | 1 |
| HP:0000739 | Anxiety | 1 |
| HP:0000817 | Poor eye contact | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000938 | Osteopenia | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0001290 | Generalized hypotonia | 1 |
| HP:0001300 | Parkinsonism | 1 |
| HP:0001688 | Sinus bradycardia | 1 |
| HP:0001950 | Respiratory alkalosis | 1 |
| HP:0001987 | Hyperammonemia | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0002059 | Cerebral atrophy | 1 |
| HP:0002076 | Migraine | 1 |
| HP:0002097 | Emphysema | 1 |
| HP:0002131 | Episodic ataxia | 1 |
| HP:0002313 | Spastic paraparesis | 1 |
| HP:0002353 | EEG abnormality | 1 |
| HP:0002360 | Sleep disturbance | 1 |
| HP:0002361 | Psychomotor deterioration | 1 |
| HP:0002371 | Loss of speech | 1 |
| HP:0002463 | Language impairment | 1 |
| HP:0002575 | Tracheoesophageal fistula | 1 |
| HP:0002943 | Thoracic scoliosis | 1 |
| HP:0002944 | Thoracolumbar scoliosis | 1 |
| HP:0002999 | Patellar dislocation | 1 |
| HP:0003270 | Abdominal distention | 1 |
| HP:0003763 | Bruxism | 1 |
| HP:0004395 | Malnutrition | 1 |
| HP:0004879 | Intermittent hyperventilation | 1 |
| HP:0005976 | Hyperkalemic metabolic acidosis | 1 |
| HP:0006846 | Acute encephalopathy | 1 |
| HP:0007269 | Spinal muscular atrophy | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010522 | Dyslexia | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0011675 | Arrhythmia | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0030147 | Truncal titubation | 1 |
| HP:0031273 | Shock | 1 |
| HP:0031491 | Continuous spike and waves during slow sleep | 1 |
| HP:0032005 | Hemidystonia | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0100660 | Dyskinesia | 1 |
| HP:0100716 | Self-injurious behavior | 1 |