{"orpha":85329,"name":"X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85329/","orphanet_url":"https://www.orpha.net/en/disease/detail/85329","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-hypotonie-dysmorphie faciale-comportement agressif","definition":"Déficience intellectuelle syndromique rare, liée à l'X, caractérisée par une déficience intellectuelle sévère à profonde, une hypotonie musculaire pendant l'enfance, un retard d'acquisition de la marche, un retard de développement du langage ou un langage très limité/absent, des troubles du comportement à type d'agressivité, d'agitation et de comportements d'automutilation et une dysmorphie faciale (visage triangulaire, front haut, oreilles proéminentes, menton petit et pointu). Les autres manifestations rapportées comprennent, entre autres, microcéphalie, petite taille et crises convulsives."},"de":{"name":"X-chromosomale Intelligenzminderung-Hypotonie-Gesichtsdysmorphien-aggressives Verhalten-Syndrom","definition":"Eine seltene X-chromosomale syndromale Form der Intelligenzminderung, die durch eine schwere bis hochgradige intellektuelle Beeinträchtigung, Muskelhypotonie in der Kindheit, verzögertes Gehen, verzögertes oder minimale/fehlende Sprache, Verhaltensauffälligkeiten wie Aggressivität, Unruhe und selbstverletzendes Verhalten sowie Gesichtsdysmorphien (z. B. dreieckiges Gesicht mit hoher Stirn, abstehende Ohren und kleines, spitzes Kinn) gekennzeichnet ist. Weitere berichtete Manifestationen sind Mikrozephalie, Kleinwuchs und Krampfanfälle."},"es":{"name":"Síndrome de discapacidad intelectual-hipotonía-dismorfia facial-conducta agresiva ligado al cromosoma X","definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por una discapacidad intelectual de grave a profunda, hipotonía muscular en la infancia, retraso en la adquisición de la marcha, habla ausente/mínima o retraso en la misma, alteraciones de la conducta incluyendo agresividad, agitación y comportamientos autodestructivos, y rasgos faciales dismórficos (tales como cara triangular con frente ancha, orejas prominentes y mentón pequeño y puntiagudo). Otras manifestaciones adicionales descritas incluyen microcefalia, talla baja y crisis epilépticas, entre otras."},"it":{"name":"Sindrome disabilità intellettiva legata all'X-ipotonia-dismorfismi facciali-comportamento aggressivo","definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da disabilità intellettiva grave-profonda, ipotonia muscolare infantile, ritardo della deambulazione, ritardo nell'acquisizione del linguaggio o linguaggio essenziale/assente, anomalie del comportamento (aggressività, agitazione e autolesionismo) e dismorfismi facciali (viso triangolare con fronte alta, orecchie prominenti e mento piccolo e appuntito). I pazienti possono presentare anche microcefalia, bassa statura e crisi epilettiche."},"nl":{"name":"X-gebonden intellectuele achterstand - hypotonie - faciale dysmorfie - agressief gedrag-syndroom","definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekarakteriseerd door ernstige tot zeer ernstige intellectuele achterstand, spierhypotonie in de kindertijd, vertraagde ontwikkeling van loopvermogen, vertraagde of minimale/afwezige spraak, gedragsafwijkingen waaronder agressie, agitatie, en zelfverwonding, en dysmorfe gelaatskenmerken (zoals driehoekig gelaat met hoog voorhoofd, prominente oren, en kleine, puntige kin). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer microcefalie, kleine gestalte, en insulten."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-hipotonia-dismorfia facial-comportamento agressivo ligada ao X"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - hipotonia - dysmorfia twarzy - agresywne zachowanie"},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, hypotonii, faciální dysmorfismus a agresivní chování"},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-гіпотонії-дисморфізму обличчя- агресивної поведінки","definition":"A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others."},"zh":{"name":"X连锁智力障碍-张力减退-面部畸形-攻击行为综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-hipotoni-yüz dismorfizmi-agresif davranış sendromu"}},"xrefs":[{"source":"OMIM","code":"304340","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C4304918","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"AP1S2","name":"adaptor related protein complex 1 subunit sigma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17186471[PMID]_12599187[PMID]","hgnc":"560","ensembl":"ENSG00000182287","omim":"300629","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"12599187[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12599187[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12599187[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}