| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
21199750 |
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. Chen CP, Chen M, Su YN, Hsu CY, Tsai FJ, Chern SR, Wu PC, Lee CC, Wang W. Taiwan J Obstet Gynecol. 2010;49(4):473-80. |
| Pointed chin Long philtrum Micrognathia | ||
| Adult Amniocentesis Chromosome Deletion Chromosomes, Human, Pair 1 Congenital Heart Defects Females Fetal Diseases Homo sapiens Maxillofacial Abnormalities Pregnancy Ultrasonography, Prenatal | ||
| 2 (60.5%) |
28288578 (5348775) |
Case report of Pierre Robin sequence with severe upper airway obstruction who was rescued by fiberoptic nasotracheal intubation. Takeshita S, Ueda H, Goto T, Muto D, Kakita H, Oshima K, Tainaka T, Ono T, Kazaoka Y, Yamada Y. BMC Anesthesiol. 2017;17(1):43. |
| Glossoptosis Micrognathia | ||
| Airway Obstruction Females Fiber Optic Technology Homo sapiens Infant, Newborn Intubation, Intratracheal Male Pierre Robin Syndrome | ||
| 3 (51.5%) |
18440888 |
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH. Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP. Eur J Med Genet. 2008;51(4):343-50. |
| Narrow palate Microcephaly Clinodactyly | ||
| Adult Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 5 Developmental Disabilities Fluorescent in Situ Hybridization Genome, Human Homo sapiens Male Oligonucleotide Array Sequence Analysis Trisomy | ||
| 4 (40.2%) |
19610110 |
Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review. Puvabanditsin S, Garrow E, Brandsma E, Savla J, Kunjumon B, Gadi I. Am J Med Genet A. 2009;149A(8):1782-5. |
| Microcephaly Short columella | ||
| Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 19 Females Fluorescent in Situ Hybridization Homo sapiens Infant Infant, Newborn Trisomy | ||
| 4 (40.2%) |
16564757 |
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. Eur J Med Genet. 2006;49(6):451-60. |
| Microcephaly Pointed chin | ||
| Child Child Behavior Disorders Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Females Fluorescent in Situ Hybridization Homo sapiens Hyperphagia Infant Learning Disabilities Male Obesity Phenotype Prader-Willi Syndrome Psychomotor Disorders Short Tandem Repeat | ||
| 6 (39.0%) |
27625875 |
Clinical presentation of two beta-thalassemic Indian patients with 1p36 deletion syndrome: Case report. De P, Chatterjee T, Chakravarty S, Chakravarty A. J Pediatr Genet. 2014;3(3):175-81. |
| Microcephaly | ||
| NT5C3A | ||
| c|SUB|G|IVS1-5|C | ||
| 6 (39.0%) |
24862882 |
Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function. Di Donato N, Klink B, Hahn G, Schrock E, Hackmann K. Eur J Med Genet. 2014;57(9):494-7. |
| Macrocephaly | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 1 Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Intellectual Disability Macrocephaly Male Phenotype Sibling Syndrome | ||
| 6 (39.0%) |
11822705 |
Monosomy 1p36--a recently delineated, clinically recognizable syndrome. Zenker M, Rittinger O, Grosse KP, Speicher MR, Kraus J, Rauch A, Trautmann U. Clin Dysmorphol. 2002;11(1):43-8. |
| Microcephaly | ||
| Child Child, Preschool Chromosomes, Human, Pair 1 Craniofacial Abnormalities Females Fluorescent in Situ Hybridization Homo sapiens Infant Intellectual Disability Male Monosomy Phenotype | ||
| 9 (33.7%) |
11251998 |
Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome. Finelli P, Giardino D, Russo S, Gottardi G, Cogliati F, Grugni G, Natacci F, Larizza L. Am J Med Genet. 2001;99(4):308-13. |
| Long philtrum | ||
| AMY2B ANXA2 COL11A1 H3F3AP6 | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 1 Cytogenetics Fluorescent in Situ Hybridization Homo sapiens Male Physical Chromosome Mapping Short Tandem Repeat Syndrome | ||
| 10 (30.8%) |
18924166 |
Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation. Chen E, Obolensky E, Rauen KA, Shaffer LG, Li X. Am J Med Genet A. 2008;146A(21):2785-90. |
| Ptosis Blepharophimosis | ||
| ETV6 MMP23A MMP23B RAD23B | ||
| Bacterial Artificial Chromosomes Cataract Choanal Atresia Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 1 Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male Matrix Metalloproteinases Metalloendopeptidases |
Total: 99
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000307 | Pointed chin | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000490 | Deeply set eye | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001274 | Agenesis of corpus callosum | Very frequent (99-80%) |
| HP:0001288 | Gait disturbance | Very frequent (99-80%) |
| HP:0001344 | Absent speech | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001773 | Short foot | Very frequent (99-80%) |
| HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
| HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0002465 | Poor speech | Very frequent (99-80%) |
| HP:0011228 | Horizontal eyebrow | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000270 | Delayed cranial suture closure | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000457 | Depressed nasal ridge | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0000534 | Abnormal eyebrow morphology | Frequent (79-30%) |
| HP:0000708 | Behavioral abnormality | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0000733 | Stereotypy | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0002015 | Dysphagia | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0008499 | High hypermetropia | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0100716 | Self-injurious behavior | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000055 | Abnormality of female external genitalia | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000107 | Renal cyst | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000135 | Hypogonadism | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000464 | Abnormality of the neck | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000878 | 11 pairs of ribs | Occasional (29-5%) |
| HP:0000892 | Bifid ribs | Occasional (29-5%) |
| HP:0000902 | Rib fusion | Occasional (29-5%) |
| HP:0001009 | Telangiectasia | Occasional (29-5%) |
| HP:0001107 | Ocular albinism | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001392 | Abnormality of the liver | Occasional (29-5%) |
| HP:0001397 | Hepatic steatosis | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001644 | Dilated cardiomyopathy | Occasional (29-5%) |
| HP:0001654 | Abnormal heart valve morphology | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0001734 | Annular pancreas | Occasional (29-5%) |
| HP:0001743 | Abnormality of the spleen | Occasional (29-5%) |
| HP:0001829 | Foot polydactyly | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002230 | Generalized hirsutism | Occasional (29-5%) |
| HP:0002242 | Abnormal intestine morphology | Occasional (29-5%) |
| HP:0002591 | Polyphagia | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002715 | Abnormality of the immune system | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003006 | Neuroblastoma | Occasional (29-5%) |
| HP:0003198 | Myopathy | Occasional (29-5%) |
| HP:0003416 | Spinal canal stenosis | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004374 | Hemiplegia/hemiparesis | Occasional (29-5%) |
| HP:0004378 | Abnormality of the anus | Occasional (29-5%) |
| HP:0005113 | Aortic arch aneurysm | Occasional (29-5%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (29-5%) |
| HP:0008066 | Abnormal blistering of the skin | Occasional (29-5%) |
| HP:0008551 | Microtia | Occasional (29-5%) |
| HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
| HP:0012733 | Macule | Occasional (29-5%) |
| HP:0100559 | Lower limb asymmetry | Occasional (29-5%) |
Total: 29
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 8 |
| HP:0001513 | Obesity | 5 |
| HP:0001510 | Growth delay | 2 |
| HP:0000201 | Pierre-Robin sequence | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000307 | Pointed chin | 1 |
| HP:0000490 | Deeply set eye | 1 |
| HP:0000537 | Epicanthus inversus | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000708 | Behavioral abnormality | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001324 | Muscle weakness | 1 |
| HP:0001548 | Overgrowth | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002353 | EEG abnormality | 1 |
| HP:0002668 | Paraganglioma | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0005978 | Type II diabetes mellitus | 1 |
| HP:0007513 | Generalized hypopigmentation | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0031273 | Shock | 1 |
| HP:0040270 | Impaired glucose tolerance | 1 |
Total: 5