| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (67.1%) |
18277563 |
[Airway access using an endotracheal tube changer for safe extubation in an infant with a difficult airway]. Kira S, Miyakawa H, Mori M, Hidaka S, Noguchi T, Fujisawa H. Masui. 2008;57(2):167-70. |
| Micrognathia Bilateral cleft lip | ||
| Airway Obstruction Anesthesia Recovery Period Homo sapiens Infant Intubation, Intratracheal Male Perioperative Care | ||
| 2 (63.0%) |
19416763 |
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. Balasubramanian M, Collins AL. Eur J Med Genet. 2009;52(4):234-8. |
| Plagiocephaly Small finger | ||
| Ectodermal Dysplasia Females Genes, Recessive Homo sapiens Infant, Newborn Leukomalacia, Periventricular Limb Deformities, Congenital Male Sibling Syndrome Ultrasonography, Prenatal | ||
| 3 (49.9%) |
18238912 |
A case of schizencephaly presenting with unilateral cryptophthalmos. Oztoprak I, Erdogan H, Gurelik M, Toker MI, Oztoprak B. Br J Radiol. 2008;81(962):e40-3. |
| Cryptophthalmos Meningoencephalocele | ||
| Eye Abnormalities Females Homo sapiens Infant Kidney Magnetic Resonance Imaging Malformations of Cortical Development | ||
| 4 (45.7%) |
10934722 |
[A case with symptomatic epilepsy and mirror movement due to unilateral schizencephaly]. Takajo I, Ohi T, Shiomi K, Sugimoto S, Matsukura S. No To Shinkei. 2000;52(7):617-20. |
| Disinhibition Hemiatrophy | ||
| Anticonvulsants Brain Epilepsy Functional Laterality Homo sapiens Male Middle Aged Movement Disorders | ||
| 5 (39.0%) |
31154486 |
Persistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus. Sunilkumar D, Nagarajan K, Kiran M, Manjubashini D, Sabarish S. Childs Nerv Syst. 2019;:. |
| Encephalocele | ||
| Child Cranial Sinuses Homo sapiens Infant Magnetic Resonance Imaging Male Schizencephaly | ||
| 5 (39.0%) |
30603230 |
Frontoethmoidal encephalocele presenting in concert with schizencephaly. Tanwir A, Bukhari S, Shamim MS. Surg Neurol Int. 2018;9:246. |
| Encephalocele | ||
| 5 (39.0%) |
26879631 |
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H. Birth Defects Res A Clin Mol Teratol. 2016;106(4):304-7. |
| Microcephaly | ||
| COL4A1 COL4A2 | ||
| c|SUB|G|2123|T p|SUB|G|708|V | ||
| Body Dysmorphic Disorders Cataract Collagen Type IV Females Homo sapiens Infant, Newborn Mutation Schizencephaly | ||
| 5 (39.0%) |
25250068 (4166835) |
Large vertex meningoencephalocele with schizencephaly: An interesting case with neurosurgical challenge. Mishra SS, Senapati SB, Das S, Deo RC. J Pediatr Neurosci. 2014;9(2):136-8. |
| Encephalocele | ||
| 5 (39.0%) |
22591407 |
A novel mutation in the beta-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, Bassi MT, Borgatti R. Dev Med Child Neurol. 2012;54(8):765-9. |
| Microcephaly | ||
| TUBB2B | ||
| c|SUB|G|419|C rs1554122907 | ||
| Alternative Splicing Axon Brain Child Females Homo sapiens Magnetic Resonance Imaging Malformations of Cortical Development Microcephaly Missense Mutation Tubulin | ||
| 5 (39.0%) |
17676222 |
Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography. Ozkur A, Kervancioglu R, Kervancioglu S, Dikensoy E, Bayram M. Saudi Med J. 2007;28(8):1289-90. |
| Microcephaly | ||
| Adult Brain Females Homo sapiens Osteogenesis Imperfecta Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal |
Total: 10
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0001257 | Spasticity | Very frequent (99-80%) |
| HP:0002132 | Porencephalic cyst | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001269 | Hemiparesis | Frequent (79-30%) |
| HP:0002510 | Spastic tetraplegia | Frequent (79-30%) |
Total: 68
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 14 |
| HP:0002539 | Cortical dysplasia | 8 |
| HP:0000252 | Microcephaly | 6 |
| HP:0000709 | Psychosis | 5 |
| HP:0001302 | Pachygyria | 5 |
| HP:0032046 | Focal cortical dysplasia | 5 |
| HP:0000238 | Hydrocephalus | 4 |
| HP:0001269 | Hemiparesis | 3 |
| HP:0002084 | Encephalocele | 3 |
| HP:0002119 | Ventriculomegaly | 3 |
| HP:0006888 | Meningoencephalocele | 3 |
| HP:0007165 | Periventricular heterotopia | 3 |
| HP:0001274 | Agenesis of corpus callosum | 2 |
| HP:0001332 | Dystonia | 2 |
| HP:0004305 | Involuntary movements | 2 |
| HP:0012847 | Epilepsia partialis continua | 2 |
| HP:0031882 | Agyria | 2 |
| HP:0032391 | Subcortical heterotopia | 2 |
| HP:0100788 | Fused lips | 2 |
| HP:0000086 | Ectopic kidney | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000829 | Hypoparathyroidism | 1 |
| HP:0000873 | Diabetes insipidus | 1 |
| HP:0001126 | Cryptophthalmos | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001264 | Spastic diplegia | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001336 | Myoclonus | 1 |
| HP:0001338 | Partial agenesis of the corpus callosum | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002170 | Intracranial hemorrhage | 1 |
| HP:0002273 | Tetraparesis | 1 |
| HP:0002301 | Hemiplegia | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0002634 | Arteriosclerosis | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0007018 | Attention deficit hyperactivity disorder | 1 |
| HP:0007227 | Macrogyria | 1 |
| HP:0007302 | Bipolar affective disorder | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0011099 | Spastic hemiparesis | 1 |
| HP:0011179 | Beta-EEG | 1 |
| HP:0011408 | Moderate intrauterine growth retardation | 1 |
| HP:0011623 | Muscular ventricular septal defect | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0012075 | Personality disorder | 1 |
| HP:0012444 | Brain atrophy | 1 |
| HP:0012642 | Cerebellar agenesis | 1 |
| HP:0012745 | Short palpebral fissure | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030516 | Homonymous hemianopia | 1 |
| HP:0040197 | Encephalomalacia | 1 |
| HP:0040292 | Left hemiplegia | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100336 | Bilateral cleft lip | 1 |
| HP:0100753 | Schizophrenia | 1 |
| HP:0100790 | Hernia | 1 |
| HP:0100817 | Renovascular hypertension | 1 |
| HP:0410170 | Hippocampal atrophy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|