| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 10 (39.0%) |
28815309 |
Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome. Ueda K, Sood S, Asano E, Kumar A, Luat AF. Childs Nerv Syst. 2017;33(11):1883-1887. |
| Microcephaly | ||
| Cerebral Decortication Child Corpus Callosum Drug Resistant Epilepsy Females Homo sapiens Neuroendoscopy Rett Syndrome | ||
| 10 (39.0%) |
27486480 (4970234) |
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay. Fryssira H, Tsoutsou E, Psoni S, Amenta S, Liehr T, Anastasakis E, Skentou Ch, Ntouflia A, Papoulidis I, Manolakos E, Chaliasos N. Mol Cytogenet. 2016;9:55. |
| Microcephaly | ||
| FOXG1 NOVA1 | ||
| 10 (39.0%) |
27296050 (4906695) |
Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report. Lv Y, Liu C, Shi M, Cui L. BMC Neurol. 2016;16:91. |
| Microcephaly | ||
| MECP2 | ||
| Child, Preschool Electroencephalography Females Hand Homo sapiens Methyl-CpG-Binding Protein 2 Motor Skills Mutation Rett Syndrome | ||
| 10 (39.0%) |
27232954 |
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. Am J Med Genet A. 2016;170(8):2200-5. |
| Microcephaly | ||
| CDKL5 FOXG1 MECP2 ST3GAL5 | ||
| p|SUB|C|195|S p|SUB|G|201|R;RS#:771732955 rs771732955 rs878854615 rs886037930 | ||
| Amino Acid Substitution Child, Preschool DNA Mutational Analysis Epilepsy Exome Females Genetic Association Studies Heterozygote High-Throughput Nucleotide Sequencing Homo sapiens Infant Phenotype Rett Syndrome Sialyltransferases Sibling | ||
| 10 (39.0%) |
25737965 (4338853) |
First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature. Gharesouran J, Khalili AF, Azari NS, Vahedi L. Epilepsy Behav Case Rep. 2015;3:15-9. |
| Microcephaly | ||
| MECP2 | ||
| c|SUB|C|385|A | ||
| 10 (39.0%) |
25439737 |
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C. Eur J Paediatr Neurol. 2015;19(1):78-86. |
| Microcephaly | ||
| CLN5 MECP2 MFSD8 | ||
| c|SUB|A|470,157|D,A c|SUB|C|881,294|T,K c|SUB|T|754+2|A;RS#:587778809 rs587778809 | ||
| Age of Onset Ataxia Blindness Child Developmental Disabilities Disease Progression Electroencephalography Females Heterozygote Homo sapiens Lysosomes Magnetic Resonance Imaging Membrane Transport Proteins Mutation Neuronal Ceroid-Lipofuscinoses Rett Syndrome Seizures | ||
| 10 (39.0%) |
25266269 |
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder. Terrone G, Bienvenu T, Germanaud D, Barthez-Carpentier MA, Diebold B, Delanoe C, Passemard S, Auvin S. Epilepsia. 2014;55(11):e116-9. |
| Microcephaly | ||
| EXT1 FOXG1 | ||
| Child Forkhead Transcription Factors Genome-Wide Association Study Homo sapiens Microcephaly Mutation Nerve Tissue Proteins Phenotype Rett Syndrome | ||
| 10 (39.0%) |
25160549 |
Paroxysmal alpha activity in Rett syndrome: a case report. Whitney R, Moharir M, Allen A, Cortez MA. Pediatr Neurol. 2014;51(3):421-5. |
| Microcephaly | ||
| Alpha Rhythm Brain Child Electroencephalography Females Homo sapiens Rett Syndrome Sleep Wakefulness | ||
| 10 (39.0%) |
25156961 |
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K. Clin Genet. 2015;88(3):288-92. |
| Microcephaly | ||
| ACTB DYRK1A GABRD PTPN11 | ||
| rs104894003 rs121918459 rs1554329078 rs1554329317 rs1554329352 rs1554329552 rs769182426 rs797044950 rs886039472 | ||
| Actins Child Child, Preschool Females GABA-A Receptor High-Throughput Nucleotide Sequencing Homo sapiens Magnetic Resonance Imaging Male Mutation Neurodevelopmental Disorders Protein Tyrosine Kinase Protein Tyrosine Phosphatase, Non-Receptor Type 11 Protein-Serine-Threonine Kinases Single Nucleotide Polymorphism | ||
| 10 (39.0%) |
23859859 |
Atypical features in MECP2 P152R-associated Rett syndrome. Sheen V, Valencia IM, Torres AR. Pediatr Neurol. 2013;49(2):124-6. |
| Macrocephaly | ||
| p|SUB|P|152|R;RS#:61748404 rs61748404 | ||
| Child Females Genotype Homo sapiens Methyl-CpG-Binding Protein 2 Phenotype Rett Syndrome |
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 |