| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.6%) |
10955479 |
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities. Plomp AS, Reardon W, Benton S, Taylor D, Larcher VF, Sundrum R, Winter RM. Clin Dysmorphol. 2000;9(3):189-92. |
| Short thumb | ||
| Congenital Foot Deformity Congenital Hand Deformities Face Females Homo sapiens Infant, Newborn Retina West Syndrome | ||
| 2 (43.1%) |
20818257 |
Orbital ectopic brain tissue in Aicardi syndrome. Ortube MC, Lazareff J, Vinters HV, Velez FG. J Craniofac Surg. 2010;21(5):1551-3. |
| Orbital cyst Encephalocele | ||
| Biopsy Brain Child, Preschool Disease Progression Ectopic Tissue Females Homo sapiens Magnetic Resonance Imaging Ophthalmoscopes X-Ray Computed Tomography | ||
| 3 (42.2%) |
1667249 |
Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. Hamano K, Matsubara T, Shibata S, Hirano C, Ito Z, Ase Y, Kusakari J, Takita H. Brain Dev. 1991;13(6):438-41. |
| Scoliosis Craniofacial asymmetry | ||
| Acoustic Impedance Tests Audiometry Brain Neoplasms Corpus Callosum Females Homo sapiens Infant Magnetic Resonance Imaging Syndrome | ||
| 4 (39.0%) |
26156442 |
[Aicardi syndrome with Dandy-Walker type malformation]. Laguado-Herrera YV, Manrique-Hernandez EF, Penaloza-Mantilla CA, Quintero-Gomez DA, Contreras-Garcia GA, Sandoval-Martinez DK. Rev Neurol. 2015;61(2):71-4. |
| Pectus excavatum Dandy-Walker malformation | ||
| Dandy-Walker Syndrome Females Homo sapiens Infant | ||
| 4 (39.0%) |
23182033 |
[Aicardi syndrome with unilateral ocular involvement]. Tabary A, Vangheluwe V, Defoort-Dhellemmes S, Drumare-Bouvet I. J Fr Ophtalmol. 2012;35(10):754-9. |
| Microcephaly | ||
| Child, Preschool Females Homo sapiens Infant Magnetic Resonance Imaging Retrospective Studies | ||
| 6 (32.1%) |
3508052 |
Aicardi syndrome with holoprosencephaly and cleft lip and palate. Sato N, Matsuishi T, Utsunomiya H, Yamashita Y, Horikoshi T, Okudera T, Hashimoto T. Pediatr Neurol. 1987;3(2):114-6. |
| Microphthalmia Cleft lip | ||
| Brain Cleft Palate Electroencephalography Females Homo sapiens Infant, Newborn Intellectual Disability Magnetic Resonance Imaging Syndrome West Syndrome X-Ray Computed Tomography | ||
| 7 (23.3%) |
30238067 (6143771) |
Aicardi syndrome in a 20-year-old female. Mavrommatis MA, Friedman AH, Fowkes ME, Hefti MM. Am J Ophthalmol Case Rep. 2018;12:61-64. |
| Blindness Scoliosis | ||
| 7 (23.3%) |
25494028 |
Scoliosis in Children With Aicardi Syndrome. Grigoriou E, DeSabato JJ, Colo D, Dormans JP. J Pediatr Orthop. 2015;35(5):e38-42. |
| Agenesis of corpus callosum Scoliosis | ||
| Child Child, Preschool Disease Progression Early Diagnosis Females Homo sapiens Infant Intraoperative Neurophysiological Monitoring Orthopedic Procedures Retrospective Studies Time-to-Treatment | ||
| 7 (23.3%) |
19116813 |
Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Steffensen TS, Gilbert-Barness E, Lacson A, Margo CE. Fetal Pediatr Pathol. 2009;28(1):24-38. |
| Microcornea Scoliosis | ||
| Brain Diseases Cell Movement Cerebellum Females Homo sapiens Infant, Newborn Malformations of Cortical Development Neurons Syndrome West Syndrome | ||
| 7 (23.3%) |
16679655 |
Aicardi syndrome: a report of five Indian cases. Banerjee TK, Chattopadhyay A, Manglik AK, Ghosh B. Neurol India. 2006;54(1):91-3. |
| Microphthalmia Thoracolumbar kyphoscoliosis | ||
| Anticonvulsants Child, Preschool Corpus Callosum Electroencephalography Homo sapiens Infant Magnetic Resonance Imaging Retinal Diseases Seizures Spasm |
Total: 50
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001302 | Pachygyria | Very frequent (99-80%) |
| HP:0001338 | Partial agenesis of the corpus callosum | Very frequent (99-80%) |
| HP:0002126 | Polymicrogyria | Very frequent (99-80%) |
| HP:0002342 | Intellectual disability, moderate | Very frequent (99-80%) |
| HP:0007703 | Abnormality of retinal pigmentation | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011343 | Moderate global developmental delay | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0012469 | Infantile spasms | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000892 | Bifid ribs | Frequent (79-30%) |
| HP:0000902 | Rib fusion | Frequent (79-30%) |
| HP:0000921 | Missing ribs | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002353 | EEG abnormality | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0003305 | Block vertebrae | Frequent (79-30%) |
| HP:0003316 | Butterfly vertebrae | Frequent (79-30%) |
| HP:0004374 | Hemiplegia/hemiparesis | Frequent (79-30%) |
| HP:0005338 | Sparse lateral eyebrow | Frequent (79-30%) |
| HP:0005815 | Supernumerary ribs | Frequent (79-30%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Frequent (79-30%) |
| HP:0010759 | Prominence of the premaxilla | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000204 | Cleft upper lip | Occasional (29-5%) |
| HP:0000541 | Retinal detachment | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000588 | Optic nerve coloboma | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0001000 | Abnormality of skin pigmentation | Occasional (29-5%) |
| HP:0001012 | Multiple lipomas | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0002019 | Constipation | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002024 | Malabsorption | Occasional (29-5%) |
| HP:0002036 | Hiatus hernia | Occasional (29-5%) |
| HP:0002884 | Hepatoblastoma | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0200008 | Intestinal polyposis | Occasional (29-5%) |
| HP:0200055 | Small hand | Occasional (29-5%) |
Total: 38
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0007858 | Chorioretinal lacunae | 42 |
| HP:0001250 | Seizures | 15 |
| HP:0000568 | Microphthalmia | 6 |
| HP:0025356 | Psychomotor retardation | 6 |
| HP:0001274 | Agenesis of corpus callosum | 5 |
| HP:0001338 | Partial agenesis of the corpus callosum | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000520 | Proptosis | 1 |
| HP:0000541 | Retinal detachment | 1 |
| HP:0000588 | Optic nerve coloboma | 1 |
| HP:0000618 | Blindness | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001144 | Orbital cyst | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001488 | Bilateral ptosis | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001662 | Bradycardia | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0002059 | Cerebral atrophy | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0002521 | Hypsarrhythmia | 1 |
| HP:0002539 | Cortical dysplasia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0007165 | Periventricular heterotopia | 1 |
| HP:0011097 | Epileptic spasms | 1 |
| HP:0011951 | Aspiration pneumonia | 1 |
| HP:0012032 | Lipoma | 1 |
| HP:0012424 | Chorioretinitis | 1 |
| HP:0030302 | Agenesis of the anterior commissure | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0031273 | Shock | 1 |
| HP:0032046 | Focal cortical dysplasia | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|