| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (69.7%) |
24715367 |
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Am J Med Genet A. 2014;164A(7):1821-5. |
| Blepharophimosis Short humerus | ||
| KAT6B KIF1BP MED12 | ||
| c|SUB|G|3443|A;RS#:387907360 p|SUB|R|1148|H;RS#:387907360 rs387907360 | ||
| Blepharophimosis Developmental Disabilities Genetic Association Studies Hirschsprung Disease Homo sapiens Infant, Newborn Male Mediator Complex Mutation Phenotype Sibling Syndrome | ||
| 2 (64.2%) |
16007629 |
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Portnoi MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S. Am J Med Genet A. 2005;137(1):47-51. |
| Velopharyngeal insufficiency Retrognathia Short palpebral fissure Finger clinodactyly | ||
| HIRA | ||
| Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 22 Congenital Heart Defects DiGeorge Syndrome Differential Diagnosis Face Females Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Infant Male Syndrome Velopharyngeal Insufficiency | ||
| 3 (60.5%) |
22447382 |
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. Aypar E, Sert A, Gokmen Z, Aslan E, Odabas D. Pediatr Cardiol. 2013;34(2):452-4. |
| Glossoptosis Micrognathia | ||
| Differential Diagnosis Echocardiography, Doppler, Color Females Follow-Up Studies Heart Ventricle Homo sapiens Infant, Newborn Isolated Noncompaction of the Ventricular Myocardi... Pierre Robin Syndrome | ||
| 4 (59.0%) |
7606185 |
Microdeletion of chromosomal region 22q11 in DiGeorge syndrome: report of a case. Hou JW, Wang JK, Chou CC, Wang TR. J Formos Med Assoc. 1995;94(4):200-2. |
| Micrognathia Frontal bossing | ||
| Chromosome Deletion Chromosomes, Human, Pair 22 DiGeorge Syndrome Females Homo sapiens Infant, Newborn | ||
| 4 (59.0%) |
984606 |
[Incomplete Digeorge syndrome (author's transl)]. Alvarez Suarez I, Pena Carrion A, Ruiz Villaespesa A, Barrio Castellano R, Fontan G, Gracia R, Ojeda JA. An Esp Pediatr. 1976;9(4):453-9. |
| Facial asymmetry Micrognathia | ||
| Autopsy DiGeorge Syndrome Differential Diagnosis Females Homo sapiens Immunologic Deficiency Syndromes Infant, Newborn Intestinal Mucosa Spleen | ||
| 6 (57.8%) |
30629863 |
[An Adult Case of 22q11.2 Deletion Syndrome with Congenital Abnormalities and Neurodevelopmental Disorders, Which Remained Undiagnosed Until Presentation of Auditory Hallucinations]. Tamune H, Nishimura F, Koshiyama D, Yamada K, Kondo S, Kano Y, Kasai K. Seishin Shinkeigaku Zasshi. 2017;119(1):9-16. |
| Micrognathia | ||
| Adult Chromosomes, Human, Pair 22 DiGeorge Syndrome Females Hallucinations Homo sapiens Neurodevelopmental Disorders Schizophrenia | ||
| 6 (57.8%) |
23834556 |
A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma. Tarlan B, Kiratli H, Klc E, Utine E, Boduroglu K. Ophthalmic Genet. 2014;35(4):248-51. |
| Microcephaly Micrognathia | ||
| Aphakia Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 22 Corneal Diseases Developmental Disabilities DiGeorge Syndrome Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Kidney Magnetic Resonance Imaging Male Microphthalmos Ventricular Septal Defects | ||
| 6 (57.8%) |
21602040 |
Failure of neuraxial anaesthesia in a patient with Velocardiofacial syndrome. Cohen V, Powell E, Lake C. Int J Obstet Anesth. 2011;20(3):256-9. |
| Micrognathia | ||
| Anesthesia, Conduction Anesthesia, Obstetrical DiGeorge Syndrome Females General Anesthesia Homo sapiens Intellectual Disability Pregnancy Pulmonary Valve Insufficiency Trilogy of Fallot | ||
| 6 (57.8%) |
16595601 |
antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). Nucera C, Vaccaro M, Moleti M, Priolo C, Tortorella G, Angioni A, Ientile R, Violi MA, Loda M, Trimarchi F, Vermiglio F. J Clin Endocrinol Metab. 2006;91(6):2021-6. |
| Micrognathia | ||
| KCNMB2 MTHFR | ||
| c|SUB|A|1298|C;RS#:1801131 c|SUB|C|677|T;RS#:1801133 | ||
| Adult Antiphospholipid Syndrome DiGeorge Syndrome Homo sapiens Hyperhomocysteinemia Hypoparathyroidism Male Mutation | ||
| 6 (57.8%) |
15658620 |
A new case of a severe clinical phenotype of the cat-eye syndrome. Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF. Genet Couns. 2004;15(4):443-8. |
| Microcephaly Micrognathia | ||
| Bradycardia Chromosomes, Human, Pair 22 Craniofacial Abnormalities Cytogenetics Fatal Outcome Females Fluorescent in Situ Hybridization Gene Duplication Genetic Counseling Genetic Markers Homo sapiens Infant, Newborn Microcephaly Phenotype Severity of Illness Index Stenosis Syndrome |
Total: 131
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
| HP:0000414 | Bulbous nose | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000600 | Abnormality of the pharynx | Very frequent (99-80%) |
| HP:0000778 | Hypoplasia of the thymus | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001611 | Nasal speech | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0001631 | Atrial septal defect | Very frequent (99-80%) |
| HP:0001636 | Tetralogy of Fallot | Very frequent (99-80%) |
| HP:0001641 | Abnormal pulmonary valve morphology | Very frequent (99-80%) |
| HP:0001660 | Truncus arteriosus | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002357 | Dysphasia | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0002691 | Platybasia | Very frequent (99-80%) |
| HP:0002721 | Immunodeficiency | Very frequent (99-80%) |
| HP:0012303 | Abnormal aortic arch morphology | Very frequent (99-80%) |
| HP:0000089 | Renal hypoplasia | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000385 | Small earlobe | Frequent (79-30%) |
| HP:0000389 | Chronic otitis media | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000492 | Abnormal eyelid morphology | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000627 | Posterior embryotoxon | Frequent (79-30%) |
| HP:0000670 | Carious teeth | Frequent (79-30%) |
| HP:0000829 | Hypoparathyroidism | Frequent (79-30%) |
| HP:0000929 | Abnormal skull morphology | Frequent (79-30%) |
| HP:0001051 | Seborrheic dermatitis | Frequent (79-30%) |
| HP:0001061 | Acne | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001256 | Intellectual disability, mild | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001281 | Tetany | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0002435 | Meningocele | Frequent (79-30%) |
| HP:0002901 | Hypocalcemia | Frequent (79-30%) |
| HP:0003326 | Myalgia | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005435 | Impaired T cell function | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007271 | Occipital myelomeningocele | Frequent (79-30%) |
| HP:0011496 | Corneal neovascularization | Frequent (79-30%) |
| HP:0012732 | Anorectal anomaly | Frequent (79-30%) |
| HP:0100765 | Abnormality of the tonsils | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000113 | Polycystic kidney dysplasia | Occasional (29-5%) |
| HP:0000130 | Abnormality of the uterus | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000262 | Turricephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0000765 | Abnormality of the thorax | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000836 | Hyperthyroidism | Occasional (29-5%) |
| HP:0000979 | Purpura | Occasional (29-5%) |
| HP:0001053 | Hypopigmented skin patches | Occasional (29-5%) |
| HP:0001081 | Cholelithiasis | Occasional (29-5%) |
| HP:0001136 | Retinal arteriolar tortuosity | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001369 | Arthritis | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001646 | Abnormal aortic valve morphology | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0001829 | Foot polydactyly | Occasional (29-5%) |
| HP:0001872 | Abnormal thrombocyte morphology | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002099 | Asthma | Occasional (29-5%) |
| HP:0002139 | Arrhinencephaly | Occasional (29-5%) |
| HP:0002239 | Gastrointestinal hemorrhage | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002414 | Spina bifida | Occasional (29-5%) |
| HP:0002566 | Intestinal malrotation | Occasional (29-5%) |
| HP:0002607 | Bowel incontinence | Occasional (29-5%) |
| HP:0002619 | Varicose veins | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002960 | Autoimmunity | Occasional (29-5%) |
| HP:0002999 | Patellar dislocation | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006510 | Chronic obstructive pulmonary disease | Occasional (29-5%) |
| HP:0006525 | obsolete Lung segmentation defects | Occasional (29-5%) |
| HP:0007302 | Bipolar affective disorder | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0011324 | Multiple suture craniosynostosis | Occasional (29-5%) |
| HP:0011662 | Tricuspid atresia | Occasional (29-5%) |
| HP:0100735 | Hypertensive crisis | Occasional (29-5%) |
| HP:0100750 | Atelectasis | Occasional (29-5%) |
| HP:0100753 | Schizophrenia | Occasional (29-5%) |
Total: 106
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002901 | Hypocalcemia | 21 |
| HP:0000829 | Hypoparathyroidism | 20 |
| HP:0002721 | Immunodeficiency | 10 |
| HP:0001250 | Seizures | 9 |
| HP:0000220 | Velopharyngeal insufficiency | 8 |
| HP:0001629 | Ventricular septal defect | 8 |
| HP:0000778 | Hypoplasia of the thymus | 6 |
| HP:0100753 | Schizophrenia | 6 |
| HP:0011611 | Interrupted aortic arch | 5 |
| HP:0000252 | Microcephaly | 4 |
| HP:0000709 | Psychosis | 4 |
| HP:0001710 | Conotruncal defect | 4 |
| HP:0002414 | Spina bifida | 3 |
| HP:0100543 | Cognitive impairment | 3 |
| HP:0000860 | Parathyroid hypoplasia | 2 |
| HP:0000979 | Purpura | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001305 | Dandy-Walker malformation | 2 |
| HP:0001643 | Patent ductus arteriosus | 2 |
| HP:0001762 | Talipes equinovarus | 2 |
| HP:0002027 | Abdominal pain | 2 |
| HP:0002090 | Pneumonia | 2 |
| HP:0002716 | Lymphadenopathy | 2 |
| HP:0002719 | Recurrent infections | 2 |
| HP:0002960 | Autoimmunity | 2 |
| HP:0003072 | Hypercalcemia | 2 |
| HP:0005374 | Cellular immunodeficiency | 2 |
| HP:0008198 | Congenital hypoparathyroidism | 2 |
| HP:0010880 | Increased nuchal translucency | 2 |
| HP:0011469 | Nasal regurgitation | 2 |
| HP:0011613 | Interrupted aortic arch type B | 2 |
| HP:0011614 | Interrupted aortic arch type C | 2 |
| HP:0000276 | Long face | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000322 | Short philtrum | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000448 | Prominent nose | 1 |
| HP:0000483 | Astigmatism | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000627 | Posterior embryotoxon | 1 |
| HP:0000647 | Sclerocornea | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000726 | Dementia | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000836 | Hyperthyroidism | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001281 | Tetany | 1 |
| HP:0001310 | Dysmetria | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001607 | Subglottic stenosis | 1 |
| HP:0001708 | Right ventricular failure | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002135 | Basal ganglia calcification | 1 |
| HP:0002199 | Hypocalcemic seizures | 1 |
| HP:0002463 | Language impairment | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002754 | Osteomyelitis | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002780 | Bronchomalacia | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0002861 | Melanoma | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003472 | Hypocalcemic tetany | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004756 | Ventricular tachycardia | 1 |
| HP:0005160 | Total anomalous pulmonary venous return | 1 |
| HP:0005359 | Aplasia of the thymus | 1 |
| HP:0005387 | Combined immunodeficiency | 1 |
| HP:0005764 | Polyarticular arthritis | 1 |
| HP:0007009 | Central nervous system degeneration | 1 |
| HP:0007707 | Congenital aphakia | 1 |
| HP:0008750 | Laryngeal atresia | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010775 | Vascular ring | 1 |
| HP:0010882 | Pulmonary valve atresia | 1 |
| HP:0011510 | Drusen | 1 |
| HP:0011590 | Double aortic arch | 1 |
| HP:0011682 | Perimembranous ventricular septal defect | 1 |
| HP:0012075 | Personality disorder | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0012490 | Panniculitis | 1 |
| HP:0012759 | Neurodevelopmental abnormality | 1 |
| HP:0012819 | Myocarditis | 1 |
| HP:0012841 | Retinal vascular tortuosity | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0030955 | Alcoholism | 1 |
| HP:0031690 | Opportunistic infection | 1 |
| HP:0031834 | Aortopulmonary collateral arteries | 1 |
| HP:0100584 | Endocarditis | 1 |
| HP:0100841 | Microgastria | 1 |
| HP:0100898 | Connective tissue nevi | 1 |
Total: 10
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| TBX1 | T-box 1 | 6899 |
| TBX1 | T-box 1 | 6899 |
| ARVCF | ARVCF delta catenin family member | 421 |
| GP1BB | glycoprotein Ib platelet subunit beta | 2812 |
| UFD1 | ubiquitin recognition factor in ER associated degradation 1 | 7353 |
| COMT | catechol-O-methyltransferase | 1312 |
| HIRA | histone cell cycle regulator | 7290 |
| JMJD1C | jumonji domain containing 1C | 221037 |
| RREB1 | ras responsive element binding protein 1 | 6239 |
| SEC24C | SEC24 homolog C, COPII coat complex component | 9632 |