| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.1%) |
19856868 |
Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure. Su PH, Chen JY, Lee IC, Ng YY, Hu JM, Chen SJ. Pediatr Neonatol. 2009;50(5):234-8. |
| Microcephaly Smooth philtrum Broad thumb Short palpebral fissure | ||
| Acrocephalosyndactylia Females Fibroblast Growth Factor Receptors Holoprosencephaly Homo sapiens Infant, Newborn Smoking | ||
| 2 (63.5%) |
12210326 |
Mosaic trisomy 9 and lobar holoprosencephaly. Gerard-Blanluet M, Danan C, Sinico M, Lelong F, Borghi E, Dassieu G, Janaud JC, Odent S, Encha-Razavi F. Am J Med Genet. 2002;111(3):295-300. |
| Micrognathia Flat face Short palpebral fissure | ||
| Brain Chromosomes, Human, Pair 9 Females Hedgehog Proteins Holoprosencephaly Homo sapiens Infant, Newborn Male Membrane Proteins Mosaicism Patched Receptors Receptors, Cell Surface Trans-Activators Trisomy | ||
| 3 (60.5%) |
24783655 |
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma. Sandal G, Tok L, Ormeci AR. Genet Couns. 2014;25(1):49-52. |
| High palate Micrognathia | ||
| Chromosomes, Human, Pair 13 Congenital Hand Deformities Females Fetal Macrosomia Gestational Age Glaucoma Holoprosencephaly Homo sapiens Infant, Newborn Polydactyly Preterm Infant Trisomy | ||
| 3 (60.5%) |
11152148 |
Situs inversus totalis and congenital hypoglossia. Amor DJ, Craig JE. Clin Dysmorphol. 2001;10(1):47-50. |
| Micrognathia Aglossia | ||
| Females Holoprosencephaly Homo sapiens Infant Mandible Situs Inversus Syndrome Tongue | ||
| 5 (59.8%) |
2240028 |
Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. Verloes A, Dodinval P, Beco L, Bonnivert J, Lambotte C. Am J Med Genet. 1990;37(1):119-23. |
| Narrow mouth Retrognathia Telecanthus Preaxial polydactyly | ||
| Child, Preschool Face Females Fetal Growth Retardation Genes, Lethal Genes, Recessive Holoprosencephaly Homo sapiens Infant Infant, Newborn Intellectual Disability Male Microcephaly Syndrome | ||
| 6 (59.0%) |
25698887 (4324465) |
Cyclopia: a rare condition with unusual presentation - a case report. Salama GS, Kaabneh MA, Al-Raqad MK, Al-Abdallah IM, Shakkoury AG, Halaseh RA. Clin Med Insights Pediatr. 2015;9:19-23. |
| Micrognathia Proboscis | ||
| 7 (57.8%) |
29278735 |
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS. Eur J Med Genet. 2018;61(5):257-261. |
| Microcephaly Overlapping fingers | ||
| RAD51C | ||
| c|SUB|G|571+5|A;RS#:145779113 c|SUB|G|935|A;RS#:779834376 | ||
| Chromosome Breakage Cleft Palate Cultured Cells DNA-Binding Proteins Fanconi Anemia Females Holoprosencephaly Homo sapiens Homozygote Infant Mutation Phenotype | ||
| 8 (57.8%) |
24605928 |
Atypical expanded-spectrum hemifacial microsomia: a case report. Magge KT, Kim J, Rogers GF, Oh AK. Cleft Palate Craniofac J. 2015;52(2):240-5. |
| Micrognathia | ||
| Females Goldenhar Syndrome Homo sapiens Infant, Newborn | ||
| 8 (57.8%) |
16506269 |
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter). Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W. Prenat Diagn. 2006;26(4):313-20. |
| Microcephaly Micrognathia | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 21 Cytogenetic Analysis Females Fluorescent in Situ Hybridization Gene Deletion Homo sapiens Pregnancy Trisomy | ||
| 8 (57.8%) |
12975789 |
Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion. Chen CP, Chern SR, Lee CC, Chen LF, Chin DT, Tzen CY, Wang W. Prenat Diagn. 2003;23(9):758-61. |
| Micrognathia | ||
| Adult Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 21 Differential Diagnosis Females Genetic Counseling Holoprosencephaly Homo sapiens Pregnancy Pregnancy Trimester, Second Trisomy |
Total: 93
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000161 | Median cleft lip | Very frequent (99-80%) |
| HP:0001360 | Holoprosencephaly | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0006315 | Single median maxillary incisor | Very frequent (99-80%) |
| HP:0008501 | Median cleft lip and palate | Very frequent (99-80%) |
| HP:0012639 | Abnormality of nervous system morphology | Very frequent (99-80%) |
| HP:0100336 | Bilateral cleft lip | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000453 | Choanal atresia | Frequent (79-30%) |
| HP:0000457 | Depressed nasal ridge | Frequent (79-30%) |
| HP:0000458 | Anosmia | Frequent (79-30%) |
| HP:0000528 | Anophthalmia | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000601 | Hypotelorism | Frequent (79-30%) |
| HP:0000612 | Iris coloboma | Frequent (79-30%) |
| HP:0000819 | Diabetes mellitus | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0001332 | Dystonia | Frequent (79-30%) |
| HP:0001943 | Hypoglycemia | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0004409 | Hyposmia | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0009804 | Reduced number of teeth | Frequent (79-30%) |
| HP:0009914 | Cyclopia | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000093 | Proteinuria | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000289 | Broad philtrum | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0000437 | Depressed nasal tip | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000488 | Retinopathy | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000574 | Thick eyebrow | Occasional (29-5%) |
| HP:0000581 | Blepharophimosis | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0000830 | Anterior hypopituitarism | Occasional (29-5%) |
| HP:0000871 | Panhypopituitarism | Occasional (29-5%) |
| HP:0000873 | Diabetes insipidus | Occasional (29-5%) |
| HP:0000929 | Abnormal skull morphology | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001531 | Failure to thrive in infancy | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001641 | Abnormal pulmonary valve morphology | Occasional (29-5%) |
| HP:0001679 | Abnormal aortic morphology | Occasional (29-5%) |
| HP:0001743 | Abnormality of the spleen | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002002 | Deep philtrum | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002019 | Constipation | Occasional (29-5%) |
| HP:0002072 | Chorea | Occasional (29-5%) |
| HP:0002084 | Encephalocele | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0002269 | Abnormality of neuronal migration | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002902 | Hyponatremia | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0005469 | Flat occiput | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Occasional (29-5%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (29-5%) |
| HP:0008572 | External ear malformation | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0009738 | Abnormality of the antihelix | Occasional (29-5%) |
| HP:0009794 | Branchial anomaly | Occasional (29-5%) |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | Occasional (29-5%) |
| HP:0010301 | Spinal dysraphism | Occasional (29-5%) |
| HP:0010302 | Spinal cord tumor | Occasional (29-5%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Occasional (29-5%) |
| HP:0011100 | Intestinal atresia | Occasional (29-5%) |
| HP:0011675 | Arrhythmia | Occasional (29-5%) |
| HP:0100596 | Absent nares | Occasional (29-5%) |
Total: 129
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009914 | Cyclopia | 25 |
| HP:0000252 | Microcephaly | 20 |
| HP:0000238 | Hydrocephalus | 17 |
| HP:0000601 | Hypotelorism | 15 |
| HP:0010442 | Polydactyly | 14 |
| HP:0002084 | Encephalocele | 12 |
| HP:0000568 | Microphthalmia | 10 |
| HP:0100259 | Postaxial polydactyly | 9 |
| HP:0000316 | Hypertelorism | 8 |
| HP:0002323 | Anencephaly | 8 |
| HP:0000873 | Diabetes insipidus | 7 |
| HP:0012806 | Proboscis | 7 |
| HP:0000161 | Median cleft lip | 6 |
| HP:0000528 | Anophthalmia | 6 |
| HP:0003228 | Hypernatremia | 6 |
| HP:0410030 | Cleft lip | 6 |
| HP:0001511 | Intrauterine growth retardation | 5 |
| HP:0001249 | Intellectual disability | 4 |
| HP:0001274 | Agenesis of corpus callosum | 4 |
| HP:0001305 | Dandy-Walker malformation | 4 |
| HP:0025011 | Pyriform aperture stenosis | 4 |
| HP:0000256 | Macrocephaly | 3 |
| HP:0000347 | Micrognathia | 3 |
| HP:0000589 | Coloboma | 3 |
| HP:0001321 | Cerebellar hypoplasia | 3 |
| HP:0007268 | Aprosencephaly | 3 |
| HP:0030779 | Ethmocephaly | 3 |
| HP:0100663 | Synotia | 3 |
| HP:0000054 | Micropenis | 2 |
| HP:0000609 | Optic nerve hypoplasia | 2 |
| HP:0000819 | Diabetes mellitus | 2 |
| HP:0001159 | Syndactyly | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0002119 | Ventriculomegaly | 2 |
| HP:0002139 | Arrhinencephaly | 2 |
| HP:0002414 | Spina bifida | 2 |
| HP:0002444 | Hypothalamic hamartoma | 2 |
| HP:0002650 | Scoliosis | 2 |
| HP:0005280 | Depressed nasal bridge | 2 |
| HP:0007973 | Retinal dysplasia | 2 |
| HP:0010880 | Increased nuchal translucency | 2 |
| HP:0012730 | Aglossia | 2 |
| HP:0030853 | Heterotaxy | 2 |
| HP:0032327 | Interhemispheric cyst | 2 |
| HP:0100336 | Bilateral cleft lip | 2 |
| HP:0100790 | Hernia | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000079 | Abnormality of the urinary system | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000131 | Uterine leiomyoma | 1 |
| HP:0000218 | High palate | 1 |
| HP:0000260 | Wide anterior fontanel | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000340 | Sloping forehead | 1 |
| HP:0000358 | Posteriorly rotated ears | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000476 | Cystic hygroma | 1 |
| HP:0000482 | Microcornea | 1 |
| HP:0000527 | Long eyelashes | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000961 | Cyanosis | 1 |
| HP:0001182 | Tapered finger | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001264 | Spastic diplegia | 1 |
| HP:0001320 | Cerebellar vermis hypoplasia | 1 |
| HP:0001331 | Absent septum pellucidum | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001662 | Bradycardia | 1 |
| HP:0001680 | Coarctation of aorta | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0001748 | Polysplenia | 1 |
| HP:0001750 | Single ventricle | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0001883 | Talipes | 1 |
| HP:0001978 | Extramedullary hematopoiesis | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0002072 | Chorea | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0002219 | Facial hypertrichosis | 1 |
| HP:0002335 | Agenesis of cerebellar vermis | 1 |
| HP:0002375 | Hypokinesia | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002539 | Cortical dysplasia | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002797 | Osteolysis | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0003422 | Vertebral segmentation defect | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0006882 | Severe hydrocephalus | 1 |
| HP:0007115 | Orbital encephalocele | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0009716 | Subependymal nodules | 1 |
| HP:0009792 | Teratoma | 1 |
| HP:0009800 | Maternal diabetes | 1 |
| HP:0009829 | Phocomelia | 1 |
| HP:0010444 | Pulmonary insufficiency | 1 |
| HP:0010464 | Streak ovary | 1 |
| HP:0010535 | Sleep apnea | 1 |
| HP:0010557 | Overlapping fingers | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010821 | Gelastic seizures | 1 |
| HP:0011436 | Abnormal maternal serum screening | 1 |
| HP:0012592 | Albuminuria | 1 |
| HP:0012741 | Unilateral cryptorchidism | 1 |
| HP:0025382 | Hypodipsia | 1 |
| HP:0030260 | Microphallus | 1 |
| HP:0030728 | Meromelia | 1 |
| HP:0030769 | Exencephaly | 1 |
| HP:0030955 | Alcoholism | 1 |
| HP:0031273 | Shock | 1 |
| HP:0040075 | Hypopituitarism | 1 |
| HP:0040197 | Encephalomalacia | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100601 | Eclampsia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|