| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
16097005 |
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. Titomanlio L, Baumann C, Bonyhay G, Huten Y, Oury JF, Vuillard E, Garel C, Terdjman P, Verloes A, Delezoide AL. Am J Med Genet A. 2005;138(1):1-5. |
| Microretrognathia | ||
| Abortion, Eugenic Craniofacial Abnormalities Fatal Outcome Females Fetal Diseases Fingers Homo sapiens Male Osteosclerosis Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 2 (39.0%) |
22674744 |
Bilateral polymicrogyria: always think in chromosome 22q11.2 deletion syndromes. Castro A, Rodrigues N, Pereira M, Goncalves C. BMJ Case Rep. 2011;2011:. |
| Microcephaly | ||
| Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 22 Developmental Disabilities Failure to Thrive Homo sapiens Infant Magnetic Resonance Imaging Male Malformations of Cortical Development | ||
| 2 (39.0%) |
20553986 |
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. Eur J Med Genet. 2010;53(5):344-6. |
| Microcephaly | ||
| Chromosome Deletion Chromosomes, Human, Pair 22 Developmental Disabilities DiGeorge Syndrome Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Malformations of Cortical Development Microcephaly | ||
| 4 (23.3%) |
24507697 (3959267) |
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Irahara K, Saito Y, Sugai K, Nakagawa E, Saito T, Komaki H, Nakata Y, Sato N, Baba K, Yamamoto T, Chan WM, Andrews C, Engle EC, Sasaki M. Pediatr Neurol. 2014;50(4):384-8. |
| Scoliosis | ||
| NTN1 ROBO3 SEMA3A SEMA3F SLIT1 SLIT2 | ||
| Child, Preschool Diffusion Tensor Imaging Females Homo sapiens Magnetic Resonance Imaging Polymicrogyria Pyramidal Tracts Syndrome | ||
| 5 (17.5%) |
10734259 |
Bilateral frontoparietal polymicrogyria and epilepsy. Sztriha L, Nork M. Pediatr Neurol. 2000;22(3):240-3. |
| Seizure Spastic tetraplegia | ||
| Child Child, Preschool Electroencephalography Epilepsy Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Parietal Lobe Quadriplegia Syndrome | ||
| 6 (4.0%) |
29622280 |
Effectiveness of total corpus callosotomy for diffuse bilateral polymicrogyria: Report of three pediatric cases. Baba S, Okanishi T, Nishimura M, Kanai S, Itamura S, Suzuki T, Masuda Y, Enoki H, Fujimoto A. Brain Dev. 2018;40(8):719-723. |
| Seizure | ||
| Child Child, Preschool Corpus Callosum Females Homo sapiens Polymicrogyria Seizures | ||
| 6 (4.0%) |
29473152 |
White matter spongiosis with vigabatrin therapy for infantile spasms. Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H. Epilepsia. 2018;59(4):e40-e44. |
| Edema | ||
| Anticonvulsants Brain Edema Child, Preschool Fatal Outcome Homo sapiens Infant, Newborn Male West Syndrome | ||
| 6 (4.0%) |
24339607 (3841628) |
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy. Nooraine J, Vasudha K, Natesh S, Iyer RB, Raghavendra S. Ann Indian Acad Neurol. 2013;16(4):678-80. |
| Ectopia lentis | ||
| 6 (4.0%) |
23981349 |
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M. Brain Dev. 2014;36(6):528-31. |
| Exotropia | ||
| ADGRG1 | ||
| c|SUB|G|107|A c|SUB|G|113|A;RS#:764367185|759353835 p|SUB|R|38|Q;RS#:764367185 p|SUB|S|36|N rs142684762 rs146278035 | ||
| Brain Child DNA Mutational Analysis Electroencephalography Females G-Protein-Coupled Receptors Heterozygote Homo sapiens Magnetic Resonance Imaging Malformations of Cortical Development Mutation | ||
| 6 (4.0%) |
19780799 |
Vagus nerve stimulation might have a unique effect in reflex eating seizures. Cukiert A, Mariani PP, Burattini JA, Cukiert CM, Forster C, Baise C, Argentoni-Baldochi M, Mello V. Epilepsia. 2010;51(2):301-3. |
| Seizure | ||
| Adult Anticonvulsants Combined Modality Therapy Electrodes, Implanted Electroencephalography Epilepsy, Complex Partial Epilepsy, Reflex Epilepsy, Temporal Lobe Females Follow-Up Studies Functional Laterality Homo sapiens Longitudinal Studies Magnetic Resonance Imaging Male Vagus Nerve Stimulation |
Total: 45
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0000565 | Esotropia | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0001256 | Intellectual disability, mild | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001268 | Mental deterioration | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001272 | Cerebellar atrophy | Frequent (79-30%) |
| HP:0001285 | Spastic tetraparesis | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002200 | Pseudobulbar signs | Frequent (79-30%) |
| HP:0002342 | Intellectual disability, moderate | Frequent (79-30%) |
| HP:0002463 | Language impairment | Frequent (79-30%) |
| HP:0004302 | Functional motor deficit | Frequent (79-30%) |
| HP:0007256 | Abnormal pyramidal sign | Frequent (79-30%) |
| HP:0007362 | Aplasia/Hypoplasia of the brainstem | Frequent (79-30%) |
| HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | Frequent (79-30%) |
| HP:0010522 | Dyslexia | Frequent (79-30%) |
| HP:0011099 | Spastic hemiparesis | Frequent (79-30%) |
| HP:0012429 | Aplasia/Hypoplasia of the cerebral white matter | Frequent (79-30%) |
| HP:0012650 | Perisylvian polymicrogyria | Frequent (79-30%) |
| HP:0040168 | Focal seizures, afebril | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000183 | Difficulty in tongue movements | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0001260 | Dysarthria | Occasional (29-5%) |
| HP:0001349 | Facial diplegia | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0002069 | Generalized tonic-clonic seizures | Occasional (29-5%) |
| HP:0002123 | Generalized myoclonic seizures | Occasional (29-5%) |
| HP:0002197 | Generalized-onset seizure | Occasional (29-5%) |
| HP:0002307 | Drooling | Occasional (29-5%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (29-5%) |
| HP:0006818 | 4-layered lissencephaly | Occasional (29-5%) |
| HP:0007024 | Pseudobulbar paralysis | Occasional (29-5%) |
| HP:0007095 | Frontoparietal polymicrogyria | Occasional (29-5%) |
| HP:0011787 | Central hypothyroidism | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0012469 | Infantile spasms | Occasional (29-5%) |
| HP:0410011 | Abnormality of masticatory muscle | Occasional (29-5%) |
| HP:3000047 | Abnormal glossopharyngeal nerve morphology | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000577 | Exotropia | 1 |
| HP:0001270 | Motor delay | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0005789 | Generalized osteosclerosis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|