{"orpha":739,"name":"Prader-Willi syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Prader-Labhart-Willi syndrome"],"definition":"A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-739/","orphanet_url":"https://www.orpha.net/en/disease/detail/739","names":{"fr":{"name":"Syndrome de Prader-Willi","synonyms":["Syndrome de Prader-Labhart-Willi"],"definition":"Syndrome génétique rare, neurodéveloppemental, caractérisé par un dysfonctionnement hypothalamo-hypophysaire avec une hypotonie sévère et des déficits alimentaires pendant la période néonatale, suivis d'une période de prise de poids excessive avec hyperphagie associée à un risque d'obésité morbide pendant l'enfance et à l'âge adulte, des difficultés d'apprentissage, des déficits sur le plan des habiletés sociales, des troubles du comportement ou des troubles psychiatriques majeurs."},"de":{"name":"Prader-Willi-Syndrom","synonyms":["Prader-Labhart-Willi-Syndrom","Willi-Prader-Syndrom"],"definition":"Ein seltene syndromale Entwicklungsstörungen des Nervensystems, die durch eine hypothalamisch-hypophysäre Dysfunktion mit schwerer Hypotonie und Fütterungsdefiziten während der Neugeborenenperiode gekennzeichnet ist, gefolgt von einer Periode exzessiver Gewichtszunahme mit Hyperphagie und dem Risiko einer schweren Adipositas in der Kindheit und im Erwachsenenalter. Weitere charakteristische Merkmale sind Lernschwierigkeiten, mangelnde sozialen Fähigkeiten und Verhaltensstörungen oder schwere psychiatrische Probleme."},"es":{"name":"Síndrome de Prader-Willi","synonyms":["Síndrome de Prader-Labhart-Willi","Síndrome de Willi-Prader"],"definition":"Es un síndrome genético poco frecuente del neurodesarrollo caracterizado por disfunción hipotálamo-hipofisaria con hipotonía grave y problemas en la alimentación durante el período neonatal seguidos de un período de aumento ponderal excesivo con hiperfagia y riesgo de obesidad grave durante la infancia y la edad adulta, dificultades de aprendizaje, déficit de habilidades sociales y trastornos de la conducta o problemas psiquiátricos graves."},"it":{"name":"Sindrome di Prader-Willi","synonyms":["Sindrome di Prader-Labhart-Willi","Sindrome di Willi-Prader"],"definition":"La sindrome di Prader-Willi (PWS) è una malattia genetica rara dello sviluppo neurologico, caratterizzata da disfunzione dell'ipotalamo e dell'ipofisi, associata a ipotonia grave e problemi di alimentazione nel periodo neonatale, seguiti da un periodo caratterizzato da un eccessivo aumento di peso e iperfagia. I pazienti presentano un rischio di obesità grave durante l'infanzia e l'età adulta, difficoltà di apprendimento, scarse competenze sociali e problemi comportamentali o disturbi psichiatrici gravi."},"nl":{"name":"Syndroom van Prader-Willi","synonyms":["Syndroom van Prader-Labhart-Willi"],"definition":"Een zeldzaam, genetisch syndroom van de neurologische ontwikkeling, gekarakteriseerd door hypothalamische-hypofysaire disfunctie met ernstige hypotonie en voedingsproblemen tijdens de neonatale periode, gevolgd door een periode van overmatige gewichtstoename met hyperfagie en een risico op ernstige obesitas tijdens de kindertijd en volwassenheid, leermoeilijkheden, beperkte sociale vaardigheden en gedragsproblemen of ernstige psychiatrische problemen."},"pt":{"name":"Síndrome Prader-Willi","synonyms":["Síndrome Willi-Prader"],"definition":"Uma síndrome genética rara do neurodesenvolvimento caracterizada por disfunção hipotálamo-hipofisária com hipotonia grave e défices alimentares durante o período neonatal, seguida de um período de aumento excessivo de peso com hiperfagia, com risco de obesidade grave durante a infância e a idade adulta, dificuldades de aprendizagem, défices de competências sociais e problemas comportamentais ou problemas psiquiátricos graves."},"pl":{"name":"Zespół Pradera i Williego","synonyms":["Zespół Pradera, Labharta i Williego","Zespół Williego i Pradera"],"definition":"Rzadki genetycznie uwarunkowany zespół neurorozwojowy charakteryzujący się dysfunkcją podwzgórzowo-przysadkową z ciężką hipotonią i deficytami żywieniowymi w okresie noworodkowym, po którym następuje okres nadmiernego przyrostu masy ciała z hiperfagią, ryzykiem ciężkiej otyłości w dzieciństwie i wieku dorosłym, trudnościami w nauce, deficytami umiejętności społecznych oraz problemami behawioralnymi i psychicznymi."},"cs":{"name":"Praderův-Williho syndrom","synonyms":["Praderův-Labhartův-Williho syndrom","Williho-Praderův syndrom","Prader-Williho syndrom","Prader-Labhart-Williho syndrom","Willi-Praderův syndrom"],"definition":"Praderův-Williho syndrom je vzácné geneticky podmíněné onemocnění, pro které je typická porucha funkce hypotalamu (části mozku) doprovázená těžkou hypotonií (svalovou slabostí) v novorozeneckém věku a prvních dvou letech života a nástupem hyperfagie (přejídání) během dětství s rizikem těžké až morbidní obezity v dospělosti. Porucha je doprovázena problémy s učením a potížemi s chováním nebo dalšími závažnými psychiatrickými problémy."},"uk":{"name":"Синдром Прадера-Віллі","synonyms":["Синдром Прадера-Лабхарта-Віллі"],"definition":"A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems."},"zh":{"name":"Prader-Willi综合征","synonyms":["Prader-Labhart-Willi综合征"]},"tr":{"name":"Prader-Willi sendromu","synonyms":["Prader-Labhart-Willi sendromu"]}},"xrefs":[{"source":"OMIM","code":"176270","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615547","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD90.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"393773440"},{"source":"MONDO","code":"0008300","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032897","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5575","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036476","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":399846,"name":"Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism","classifications":[156,201]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[{"orpha":177910,"name":"Prader-Willi syndrome due to imprinting mutation","type":"Etiological subtype"},{"orpha":98754,"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15","type":"Etiological subtype"},{"orpha":98793,"name":"Prader-Willi syndrome due to paternal 15q11q13 deletion","type":"Etiological subtype"},{"orpha":177907,"name":"Prader-Willi syndrome due to translocation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MAGEL2","name":"MAGE family member L2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]","hgnc":"6814","ensembl":"ENSG00000254585","omim":"605283","loci":["15q11.2"],"via":{"orpha":98754,"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"}},{"symbol":"MAGEL2","name":"MAGE family member L2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]","hgnc":"6814","ensembl":"ENSG00000254585","omim":"605283","loci":["15q11.2"],"via":{"orpha":177910,"name":"Prader-Willi syndrome due to imprinting mutation"}},{"symbol":"NDN","name":"necdin, MAGE family member","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]","hgnc":"7675","ensembl":"ENSG00000182636","omim":"602117","loci":["15q11.2"],"via":{"orpha":98754,"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"}},{"symbol":"NDN","name":"necdin, MAGE family member","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24039599[PMID]","hgnc":"7675","ensembl":"ENSG00000182636","omim":"602117","loci":["15q11.2"],"via":{"orpha":177910,"name":"Prader-Willi syndrome due to imprinting mutation"}},{"symbol":"OCA2","name":"OCA2 melanosomal transmembrane protein","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]","hgnc":"8101","ensembl":"ENSG00000104044","omim":"611409","loci":["15q12-q13.1"],"via":{"orpha":98754,"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"}},{"symbol":"SNORD115@","name":"small nucleolar RNA, C/D box 115 cluster","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"22495932[PMID]_20301505[PMID]_28296064[PMID]","hgnc":"32780","ensembl":null,"omim":"609837","loci":["15q11.2"],"via":{"orpha":177910,"name":"Prader-Willi syndrome due to imprinting mutation"}},{"symbol":"SNORD116@","name":"small nucleolar RNA, C/D box 116 cluster","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"22495932[PMID]","hgnc":"32781","ensembl":null,"omim":"605436","loci":["15q11.2"],"via":{"orpha":177910,"name":"Prader-Willi syndrome due to imprinting mutation"}},{"symbol":"SNRPN","name":"small nuclear ribonucleoprotein polypeptide N","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]","hgnc":"11164","ensembl":"ENSG00000128739","omim":"182279","loci":["15q11.2"],"via":{"orpha":98754,"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"}},{"symbol":"SNRPN","name":"small nuclear ribonucleoprotein polypeptide N","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11159938[PMID]_12154412[PMID]_8845846[PMID]","hgnc":"11164","ensembl":"ENSG00000128739","omim":"182279","loci":["15q11.2"],"via":{"orpha":177907,"name":"Prader-Willi syndrome due to translocation"}},{"symbol":"SNRPN","name":"small nuclear ribonucleoprotein polypeptide N","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"9634532[PMID]","hgnc":"11164","ensembl":"ENSG00000128739","omim":"182279","loci":["15q11.2"],"via":{"orpha":177910,"name":"Prader-Willi syndrome due to imprinting mutation"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Belgium","status":"Validated","source":"14679397[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Belgium","status":"Validated","source":"14679397[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.4,"area":"United Kingdom","status":"Validated","source":"11732491[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"United Kingdom","status":"Validated","source":"11732491[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.6,"area":"Japan","status":"Validated","source":"8579217[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Japan","status":"Validated","source":"8579217[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Australia","status":"Validated","source":"12598399[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Australia","status":"Validated","source":"12598399[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"United States","status":"Validated","source":"2240051[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United States","status":"Validated","source":"2240051[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.76,"area":"France","status":"Validated","source":"28659150[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.229,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-08-07","source":"22585395[PMID]_20301505[PMID]_30365815[PMID]_29685165[PMID]","terms":[{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012743","label":"Abdominal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000060","label":"Clitoral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030339","label":"Decreased circulating gonadotropin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001055","label":"Erysipelas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012650","label":"Perisylvian polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012506","label":"Small pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031100","label":"Decreased inhibin B level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012411","label":"Premature pubarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012166","label":"Skin-picking","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011734","label":"Central adrenal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null}]}}