| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
22884750 |
[Macrocephaly-capillary malformation. A neonatal case]. Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P. Arch Pediatr. 2012;19(9):917-20. |
| Macrocephaly Syndactyly | ||
| Females Homo sapiens Infant, Newborn Macrocephaly Skin Diseases, Vascular Telangiectasis | ||
| 1 (48.8%) |
18816642 (2819374) |
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Gucev ZS, Tasic V, Jancevska A, Konstantinova MK, Pop-Jordanova N, Trajkovski Z, Biesecker LG. Am J Med Genet A. 2008;146A(20):2688-90. |
| Cranial asymmetry Splayed toes | ||
| PIK3CA | ||
| Congenital Foot Deformity Females Homo sapiens Infant, Newborn Lipomatosis Lymphatic Abnormalities Malformations of Cortical Development Nevus Pregnancy Seizures Syndrome | ||
| 1 (48.8%) |
15039980 |
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N. Am J Med Genet A. 2004;126A(1):99-103. |
| Macrocephaly Toe syndactyly | ||
| Adult Brain Child Child, Preschool Craniofacial Abnormalities Fatal Outcome Females Homo sapiens Infant Infant, Newborn Intellectual Disability Magnetic Resonance Imaging Male Skin Abnormalities Syndactyly Syndrome Telangiectasis | ||
| 4 (48.3%) |
12001190 |
Prenatal ultrasound diagnosis of frontonasal dysplasia. Martinelli P, Russo R, Agangi A, Paladini D. Prenat Diagn. 2002;22(5):375-9. |
| Median cleft lip Cranium bifidum occultum | ||
| ALX3 | ||
| Abortion, Eugenic Adult Brain Craniofacial Dysostosis Females Gestational Age Homo sapiens Male Nose Pregnancy Ultrasonography, Prenatal | ||
| 5 (47.5%) |
23794269 |
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. Wang D, Zeesman S, Tarnopolsky MA, Nowaczyk MJ. Am J Med Genet A. 2013;161A(8):2016-9. |
| Macrocephaly Short philtrum | ||
| AKT3 | ||
| Chromosomes, Human, Pair 1 Developmental Disabilities Females Gene Duplication Homo sapiens Infant, Newborn Intellectual Disability Macrocephaly Phenotype Proto-Oncogene Proteins c-akt | ||
| 6 (46.3%) |
7625436 |
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Dodge NN, Dobyns WB. Am J Med Genet. 1995;56(2):147-50. |
| Dandy-Walker malformation Hemihypertrophy | ||
| Brain Dandy-Walker Syndrome Facial Neoplasms Females Hamartoma Homo sapiens Infant, Newborn Magnetic Resonance Imaging Nevus Sebaceous Glands Syndrome | ||
| 6 (46.3%) |
1902803 |
Hemimegalencephaly: diagnosis and treatment. Trounce JQ, Rutter N, Mellor DH. Dev Med Child Neurol. 1991;33(3):261-6. |
| Macrocephaly Hemihypertrophy | ||
| Adult Child Child, Preschool Dominance, Cerebral Epilepsies, Partial Facial Hemiatrophy Follow-Up Studies Homo sapiens Male Neurologic Examination | ||
| 8 (45.7%) |
18611208 |
Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure-related neuronal loss. Becherini F, Pisano T, Castagna M, Iannelli A, Guerrini R. Dev Med Child Neurol. 2008;50(7):553-7. |
| Seizure Hemiatrophy | ||
| Cell Death Child Electroencephalography Females Functional Laterality Hemispherectomy Homo sapiens Magnetic Resonance Imaging Neuroaxonal Dystrophies Seizures | ||
| 8 (45.7%) |
11358015 |
Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature. Kopniczky Z, Kobor J, Maraz A, Vajtai I. Pathol Res Pract. 2001;197(4):279-84. |
| Seizure Hemiatrophy | ||
| Astrocytoma Child Epilepsy Females Glial Fibrillary Acidic Protein Hamartoma Homo sapiens Immunohistochemistry Sebaceous Gland Neoplasms Sebaceous Glands Supratentorial Neoplasms Syndrome | ||
| 8 (45.7%) |
8214333 |
A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus. Ogihara M, Kinoue K, Takamiya H, Nemoto S, Miyajima T, Hoshika A, Honda T, Takashima S, Genton P, Dravet C, et al.. Brain Dev. 1993;15(2):133-9. |
| Myoclonus Hemiatrophy | ||
| Brain Electroencephalography Females Homo sapiens Infant Magnetic Resonance Imaging Myoclonic Epilepsy Syndrome X-Ray Computed Tomography |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 59
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 42 |
| HP:0001528 | Hemihypertrophy | 16 |
| HP:0001548 | Overgrowth | 9 |
| HP:0003764 | Nevus | 6 |
| HP:0001269 | Hemiparesis | 5 |
| HP:0001302 | Pachygyria | 5 |
| HP:0002539 | Cortical dysplasia | 5 |
| HP:0032046 | Focal cortical dysplasia | 5 |
| HP:0000238 | Hydrocephalus | 4 |
| HP:0002133 | Status epilepticus | 4 |
| HP:0010817 | Linear nevus sebaceous | 3 |
| HP:0012032 | Lipoma | 3 |
| HP:0000324 | Facial asymmetry | 2 |
| HP:0002059 | Cerebral atrophy | 2 |
| HP:0002119 | Ventriculomegaly | 2 |
| HP:0002171 | Gliosis | 2 |
| HP:0007109 | Periventricular cysts | 2 |
| HP:0010816 | Epidermal nevus | 2 |
| HP:0011215 | Hemihypsarrhythmia | 2 |
| HP:0012847 | Epilepsia partialis continua | 2 |
| HP:0200134 | Epileptic encephalopathy | 2 |
| HP:0000099 | Glomerulonephritis | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000267 | Cranial asymmetry | 1 |
| HP:0000360 | Tinnitus | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0000965 | Cutis marmorata | 1 |
| HP:0001009 | Telangiectasia | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001254 | Lethargy | 1 |
| HP:0001274 | Agenesis of corpus callosum | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001336 | Myoclonus | 1 |
| HP:0001770 | Toe syndactyly | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002060 | Abnormality of the cerebrum | 1 |
| HP:0002301 | Hemiplegia | 1 |
| HP:0002373 | Febrile seizures | 1 |
| HP:0002536 | Abnormal cortical gyration | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002678 | Skull asymmetry | 1 |
| HP:0006934 | Congenital nystagmus | 1 |
| HP:0007359 | Focal-onset seizure | 1 |
| HP:0009716 | Subependymal nodules | 1 |
| HP:0009717 | Cortical tubers | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0025104 | Capillary malformation | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0031274 | Hypovolemic shock | 1 |
| HP:0040197 | Encephalomalacia | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0100555 | Asymmetric growth | 1 |
| HP:0100556 | Hemiatrophy | 1 |