{"orpha":500055,"name":"Hao-Fountain syndrome due to 16p13.2 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Chromosome 16p13.2 deletion syndrome","Del(16)(p13.2)","Monosomy 16p13.2"],"definition":"A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500055/","orphanet_url":"https://www.orpha.net/en/disease/detail/500055","names":{"fr":{"name":"Syndrome Hao-Fountain due à la microdélétion 16p13.2","synonyms":["Del(16)(p13.2)","Monosomie 16p13.2"],"definition":"Délétion partielle du bras court du chromosome 16 caractérisée par un retard de développement, une déficience intellectuelle, un retard de langage, un trouble du spectre autistique, une épilepsie, un hypogonadisme et une hypotonie. Les comportements typiques incluent l'impulsivité, la compulsivité, l'obstination, les comportements manipulateurs, les crises de colère et les comportements agressifs."},"de":{"name":"Hao-Fountain-Syndrom durch Mikrodeletion 16p13.2","synonyms":["Del(16)(p13.2)"],"definition":"Eine seltene Chromosomenstörung, die aus einer partiellen Deletion des kurzen Arms von Chromosom 16 resultiert und gekennzeichnet ist durch Entwicklungsverzögerung, Intelligenzminderung, Sprachentwicklungsverzögerung, Autismus-Spektrum-Störung, Epilepsie, Hypogonadismus und Hypotonie. Das Verhaltensprofil umfasst Impulsivität, Zwanghaftigkeit, Sturheit, manipulatives Verhalten, Wutausbrüche und aggressives Verhalten."},"es":{"name":"Síndrome de microdeleción 16p13.2","synonyms":["Del(16)(p13.2)","Monosomía 16p13.2"],"definition":"Es una deleción parcial del brazo corto del cromosoma 16 caracterizada por retraso psicomotor, discapacidad intelectual, retraso en el habla, trastorno del espectro autista, epilepsia, hipogonadismo e hipotonía. El perfil de comportamiento incluye una conducta impulsiva y compulsiva, terquedad, comportamiento manipulador, rabietas y conducta agresiva."},"it":{"name":"Sindrome da microdelezione 16p13.2","synonyms":["Del(16)(p13.2)","Monosomia 16p13.2"],"definition":"Si tratta di una delezione parziale del braccio corto del cromosoma 16, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, ritardo del linguaggio, disturbi dello spettro autistico, epilessia, ipogonadismo e ipotonia. Le anomalie del comportamento comprendono l'impulsività, la compulsione, l'ostinazione, i comportamenti manipolatori, gli scatti d'ira e l'aggressività."},"nl":{"name":"16p13.2-microdeletiesyndroom","synonyms":["Del(16)(p13.2)","Monosomie 16p13.2"],"definition":"Een partiële deletie van de korte arm van chromosoom 16, gekarakteriseerd door ontwikkelingsachterstand, intellectuele achterstand, spraakachterstand, autismespectrumstoornis, epilepsie, hypogonadisme, en hypotonie. Het gedragsprofiel omvat impulsiviteit, dwangmatig gedrag, koppigheid, manipulatief gedrag, woedeaanvallen, en agressief gedrag."},"pt":{"name":"Síndrome Hao-Fountain por microdeleção 16p13.2","synonyms":["Del(16)(p13.2)","Monossomia 16p13.2"]},"pl":{"name":"Zespół mikrodelecji 16p13.2","synonyms":["Del(16)(p13.2)","Monosomia 16p13.2"]},"cs":{"name":"Mikrodeleční syndrom 16p13.2","synonyms":["Del(16)(p13.2)","Monozomie 16p13.2"]},"uk":{"name":"Синдром Хао-Фонтена внаслідок мікроделеції 16p13.2","synonyms":["Синдром делеції хромосоми 16p13.2","Del(16)(p13.2)","Моносомія 16p13.2"],"definition":"A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors."},"zh":{"name":"16p13.2微缺失综合征","synonyms":["16p13.缺失"],"definition":"16号染色体短臂部分缺失，特征是发育迟缓、智力障碍、语言迟缓、自闭症谱系障碍、癫痫、性腺功能减退和肌张力低下。行为特征包括冲动、强迫、固执、操纵行为、脾气暴躁和攻击性行为。"},"tr":{"name":"16p13.2 mikrodelesyon sendromu","synonyms":["Del(16)(p13.2)","Monozomi 16p13.2"]}},"xrefs":[{"source":"OMIM","code":"616863","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0100528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":643549,"name":"Hao-Fountain syndrome","classifications":[156,181]},{"orpha":261956,"name":"Partial deletion of the short arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"USP7","name":"ubiquitin specific peptidase 7","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26365382[PMID]","hgnc":"12630","ensembl":"ENSG00000187555","omim":"602519","loci":["16p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26365382[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26365382[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-16","source":"30679821[PMID]_26365382[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007082","label":"Dilated third ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012166","label":"Skin-picking","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}