{"orpha":567,"name":"22q11.2 deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["22q11DS","CATCH 22","Cayler cardiofacial syndrome","Conotruncal anomaly face syndrome","DiGeorge sequence","DiGeorge syndrome","Microdeletion 22q11.2","Monosomy 22q11","Sedlackova syndrome","Shprintzen syndrome","Takao syndrome","Velocardiofacial syndrome"],"definition":"A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-567/","orphanet_url":"https://www.orpha.net/en/disease/detail/567","names":{"fr":{"name":"Syndrome de délétion 22q11.2","synonyms":["22q11DS","CATCH 22","Microdélétion 22q11.2","Monosomie 22q11","Syndrome cardio-facial de Cayler","Syndrome de DiGeorge","Syndrome de Sedlackova","Syndrome de Shprintzen","Syndrome de Takao","Syndrome des anomalies conotroncales et de la face","Syndrome vélo-cardio-facial","Séquence de DiGeorge"],"definition":"Anomalie chromosomique congénitale rare, caractérisée le plus souvent par des malformations cardiaques et palatines, une dysmorphie faciale, un retard du développement et une immunodéficience."},"de":{"name":"22q11.2-Deletionssyndrom","synonyms":["22q11DS","CATCH 22","Cayler kardiofaziales Syndrom","DS22q11","Di George-Syndrom","DiGeorge-Sequenz","Mikrodeletion 22q11.2","Monosomie 22q11","Sedlackova-Syndrom","Sphrintzen-Syndrom","Syndrom der konotrunkalen Anomalie mit Gesichtsdysmorphie","Takao-Syndrom","Velokardiofaziales Syndrom"],"definition":"Das 22q11.2-Deletions-Syndrom (DS) ist eine Chromosomenanomalie mit angeborenen Fehlbildungen. Die häufigsten Symptome sind Herzfehler, Gaumen-Anomalien, faziale Dysmorphien, verzögerte Entwicklung und Immunschwäche."},"es":{"name":"Síndrome de deleción 22q11.2","synonyms":["22q11DS","CATCH 22","Microdeleción 22q11.2","Monosomía 22q11","Secuencia de DiGeorge","Síndrome cardiofacial de Cayler","Síndrome de DiGeorge","Síndrome de Sedlackova","Síndrome de Shprintzen","Síndrome de Takao","Síndrome facial con anomalía conotruncal","Síndrome velocardiofacial"],"definition":"Es una anomalía cromosómica poco frecuente que causa un cuadro clínico con malformaciones congénitas, caracterizadas típicamente por defectos cardíacos, anomalías palatinas, dismorfia facial, retraso psicomotor e inmunodeficiencia."},"it":{"name":"Sindrome da delezione 22q11.2","synonyms":["22q11DS","CATCH 22","Microdelezione 22q11.2","Monosomia 22q11","Sequenza di DiGeorge","Sindrome cardiofacciale di Cayler","Sindrome da anomalie facciali e troncoconali","Sindrome di DiGeorge","Sindrome di Sedlackova","Sindrome di Shprintzen","Sindrome di Takao","Sindrome velo-cardio-facciale"],"definition":"La sindrome da delezione 22q11.2 è un'anomalia cromosomica rara responsabile di una condizione malformativa congenita, caratterizzata da cardiopatie, anomalie del palato, dismorfismi facciali, ritardo dello sviluppo e immunodeficienza."},"nl":{"name":"22q11.2-deletiesyndroom","synonyms":["22q11DS","CATCH 22","Cardiofaciaal syndroom van Cayler","Conotruncale en aangezichtsanomalie-syndroom","DiGeorge-sequentie","Microdeletie 22q11.2","Monosomie 22q11","Syndroom van DiGeorge","Syndroom van Sedlackova","Syndroom van Shprintzen","Syndroom van Takao","VCFS","Velocardiofaciaal syndroom"],"definition":"Een zeldzame chromosomale anomalie die een congenitale malformatie veroorzaakt, doorgaans gekarakteriseerd door hartdefecten, anomalieën van verhemelte, faciale dysmorfie, ontwikkelingsachterstand, en immuundeficiëntie."},"pt":{"name":"Síndrome de deleção 22q11.2","synonyms":["CATCH 22","Síndrome DiGeorge","Síndrome Shprintzen","Síndrome velocardiofacial"],"definition":"Anomalia cromossómica rara que causa uma malformação congénita, tipicamente caracterizada por defeitos cardíacos, anomalias palatinas, dismorfismo facial, atraso no desenvolvimento e deficiência imunológica."},"pl":{"name":"Zespół delecji 22q11.2","synonyms":["22q11DS","CATCH 22","Mikrodelecja 22q11.2","Monosomia 22q11","Sekwencja DiGeorge","Zespół CTAFS (Conotruncal anomaly face syndrome)","Zespół DiGeorge","Zespół podniebienno-sercowo-twarzowy","Zespół Sedlackova","Zespół sercowo-twarzowy Cayler","Zespół Shprintzena","Zespół Takao"],"definition":"Rzadka anomalia chromosomowa związana z zespołem wad wrodzonych, która zazwyczaj obejmuje wady serca, podniebienia, dysmorfię twarzy, opóźnienie rozwoju i niedobór odporności."},"cs":{"name":"Mikrodeleční syndrom 22q11.2","synonyms":["22q11DS","CATCH 22","Kardiofaciální syndrom","DiGeorgeova sekvence","Mikrodelece 22q11.2","Monozomie 22q11","Velokardiofaciální syndrom","Caylerův syndrom","Syndrom konotrunkální anomálie obličeje","DiGeorgeův syndrom","Syndrom Sedláčkové","Shprintzenův syndrom","Takaův syndrom"]},"uk":{"name":"Синдром делеції 22q11.2","synonyms":["22q11DS","CATCH 22","Кардіофасціальний синдром Кейлера","Синдром конотранкальної аномалії обличчя","Послідовність Ді Джорджи","Синдром Ді Джорджи","Мікроделеція 22q11.2","Моносомія 22q11","Синдром Седлачкова","Синдром Шпрінцена","Синдром Такао","Велокардіофасціальний синдром"],"definition":"A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency."},"zh":{"name":"22q11.2缺失综合征","synonyms":["圆锥动脉干异常-面综合征"]},"tr":{"name":"22q11.2 delesyon sendromu","synonyms":["22q11DS","CATCH 22","Monozomi 22q11","Takao sendromu","DiGeorge dizisi","DiGeorge sendromu","Sedlackova sendromu","Shprintzen sendromu","Mikrodelesyon 22q11.2","Velokardiyofasiyal sendrom","Cayler kardiyofasiyal sendrom","Konotrunkal anomali yüz sendromu"]}},"xrefs":[{"source":"OMIM","code":"125520","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"188400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"192430","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD44.N0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1868156761"},{"source":"MONDO","code":"0018923","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0012236","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10299","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10012979","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262182,"name":"Partial deletion of the long arm of chromosome 22 syndrome","classifications":[147,156]},{"orpha":138047,"name":"Pierre Robin syndrome associated with a chromosomal anomaly","classifications":[147,156,200,209]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","classifications":[156,195]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14585638[PMID]","hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"]},{"symbol":"JMJD1C","name":"jumonji domain containing 1C","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"26608785[PMID]","hgnc":"12313","ensembl":"ENSG00000171988","omim":"604503","loci":["10q21.3"]},{"symbol":"RREB1","name":"ras responsive element binding protein 1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"26608785[PMID]","hgnc":"10449","ensembl":"ENSG00000124782","omim":"602209","loci":["6p24.3"]},{"symbol":"SEC24C","name":"SEC24 homolog C, COPII component","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"26608785[PMID]","hgnc":"10705","ensembl":"ENSG00000176986","omim":"607185","loci":["10q22.2"]},{"symbol":"ARVCF","name":"ARVCF delta catenin family member","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"728","ensembl":"ENSG00000099889","omim":"602269","loci":["22q11.21"]},{"symbol":"COMT","name":"catechol-O-methyltransferase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23992923[PMID]","hgnc":"2228","ensembl":"ENSG00000093010","omim":"116790","loci":["22q11.21"]},{"symbol":"GP1BB","name":"glycoprotein Ib platelet subunit beta","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"4440","ensembl":"ENSG00000203618","omim":"138720","loci":["22q11.21"]},{"symbol":"HIRA","name":"histone cell cycle regulator","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15177686[PMID]","hgnc":"4916","ensembl":"ENSG00000100084","omim":"600237","loci":["22q11.21"]},{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"]},{"symbol":"UFD1","name":"ubiquitin recognition factor in ER associated degradation 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"12520","ensembl":"ENSG00000070010","omim":"601754","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.3,"area":"France","status":"Not yet validated","source":"8863171[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":37.5,"area":"Worldwide","status":"Not yet validated","source":"21570089[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.8,"area":"United States","status":"Validated","source":"12837874[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2019[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-19","source":"26056486[PMID]_20301696[PMID]_36729053[PMID]_36729052[PMID]","terms":[{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000778","label":"Hypoplasia of the thymus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002691","label":"Platybasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011840","label":"Abnormality of T cell physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100765","label":"Abnormality of the tonsils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011496","label":"Corneal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000627","label":"Posterior embryotoxon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001281","label":"Tetany","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100735","label":"Hypertensive crisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional 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