| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.0%) |
29497646 (5818703) |
Management of general anesthesia in a child with Miller-Dieker syndrome: a case report. Wakiguchi C, Godai K, Mukaihara K, Ohnou T, Kuniyoshi T, Masuda M, Kanmura Y. JA Clin Rep. 2015;1(1):14. |
| Micrognathia Prominent forehead | ||
| 1 (59.0%) |
2666671 |
The Miller-Dieker syndrome: a case report and review of the literature. Izmeth MG, Parameshwar E. J Ment Defic Res. 1989;33 ( Pt 3):267-70. |
| Micrognathia High forehead | ||
| Brain Homo sapiens Infant Intellectual Disability Neurocognitive Disorders Syndrome | ||
| 3 (53.2%) |
10406660 |
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. Mutchinick OM, Shaffer LG, Kashork CD, Cervantes EI. Am J Med Genet. 1999;85(2):99-104. |
| Microcephaly Long fingers | ||
| PAFAH1B1 | ||
| Child Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 5 Facies Females Fluorescent in Situ Hybridization Gene Deletion Homo sapiens Microtubule-Associated Proteins Phenotype Proteins Syndrome Trisomy | ||
| 4 (48.8%) |
8249946 |
Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. Alvarado M, Bass HN, Caldwell S, Jamehdor M, Miller AA, Jacob P. Am J Dis Child. 1993;147(12):1291-4. |
| Microcephaly Polydactyly | ||
| CNOT8 | ||
| Adult Brain Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 19 Congenital Abnormality Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Syndrome | ||
| 5 (43.6%) |
9761392 |
Neuropathological findings in Moebius syndrome. Lammens M, Moerman Ph, Fryns JP, Schroder JM, Spinnewyn D, Casaer P, Dom R. Clin Genet. 1998;54(2):136-41. |
| Fetal akinesia sequence Peromelia | ||
| Brain Stem Females Homo sapiens Infant, Newborn Male Spinal Cord | ||
| 6 (41.7%) |
27617133 |
A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome. Atwal PS, Macmurdo C. J Pediatr Genet. 2015;4(4):201-3. |
| Velopharyngeal insufficiency Microcephaly | ||
| PAFAH1B1 | ||
| 7 (39.0%) |
23301919 |
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome. Kochuvareed Mampilly T, Tomy Mampilly G, Chandramohan N, Velayutham M, Sheth J, Sheth F, Janaki V. Fetal Pediatr Pathol. 2013;32(4):308-11. |
| Dolichocephaly | ||
| Body Weights and Measures Classical Lissencephalies and Subcortical Band Het... Females Head Homo sapiens Pregnancy Ultrasonography, Prenatal | ||
| 7 (39.0%) |
23063769 |
A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication? Ho AC, Liu AP, Lun KS, Tang WF, Chan KY, Lau EY, Tang MH, Tan TY, Chung BH. Eur J Med Genet. 2012;55(12):758-62. |
| Microcephaly | ||
| PAFAH1B1 YWHAE | ||
| Aortic Valve Stenosis Chromosomes, Human, Pair 17 Facies Fatal Outcome Homo sapiens Infant Infant, Newborn Male Microcephaly Phenotype Trisomy | ||
| 7 (39.0%) |
20833799 |
Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy. Tenney JR, Hopkin RJ, Schapiro MB. J Child Neurol. 2011;26(2):223-7. |
| Macrocephaly | ||
| CRK PAFAH1B1 | ||
| 14-3-3 Proteins Brain Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 17 Cytogenetics Developmental Disabilities Electroencephalography Epilepsy, Generalized Females Homo sapiens Macrocephaly Syndrome | ||
| 7 (39.0%) |
20599530 |
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S. Eur J Med Genet. 2010;53(5):303-8. |
| Macrocephaly | ||
| PAFAH1B1 YWHAE | ||
| 14-3-3 Proteins Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 17 Classical Lissencephalies and Subcortical Band Het... Females Haploinsufficiency Homo sapiens Male Microtubule-Associated Proteins Young Adult |
Total: 18
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000177 | Abnormality of upper lip | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001339 | Lissencephaly | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001626 | Abnormality of the cardiovascular system | Frequent (79-30%) |
| HP:0000112 | Nephropathy | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
Total: 17
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0001302 | Pachygyria | 2 |
| HP:0008897 | Postnatal growth retardation | 2 |
| HP:0000340 | Sloping forehead | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000717 | Autism | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002488 | Acute leukemia | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0025386 | Bitemporal hollowing | 1 |
| HP:0025615 | Abscess | 1 |
| HP:0031882 | Agyria | 1 |
Total: 3