{"orpha":163956,"name":"X-linked intellectual disability, Nascimento type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability-nail dystrophy-seizures syndrome"],"definition":"X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163956/","orphanet_url":"https://www.orpha.net/en/disease/detail/163956","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Nascimento","synonyms":["Syndrome de déficience intellectuelle liée à l'X-dystrophie des ongles-épilepsie"],"definition":"La déficience intellectuelle liée à l'X type Nascimento est un syndrome rare de déficit intellectuel lié à l'X. Elle se caractérise par un déficit intellectuel (avec un trouble sévère de la parole), une apparence myxoedémateuse, une dysmorphie faciale (incluant une large tête, un synophrys, des crêtes supra-orbitaires proéminentes, des yeux en forme d'amande implantés profondément, de larges oreilles, une large bouche avec la lèvre inférieure éversée et des coins orientés vers le bas), une implantation basse des cheveux, un cou large et court, un hirsutisme général prononcé et des spirales d'implantation capillaire anormales, des changements cutanés (peau sèche ou points hypopigmentés), des mamelons largement espacés, une obésité, un micropénis, une onychodystrophie et des convulsions."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Nascimento","synonyms":["X-chromosomale Intelligenzminderung-Nageldystrophie-Krämpfe-Syndrom"],"definition":"Ein seltenes X-chromosomal vererbtes Syndrom, das gekennzeichnet ist durch Intelligenzminderung (mit schwerer Sprachbehinderung), myxödematöses Erscheinungsbild, dysmorphe Gesichtszüge (großer Kopf, Synophrys, prominente Überaugenwulst, mandelförmige und tiefliegende Augen, große Ohren, breiter Mund mit umgekehrter Unterlippe und nach unten gerichteten Lippenwinkeln), einen niedrigen hinteren Haaransatz, einen kurzen, breiten Hals, ausgeprägten allgemeinen Hirsutismus und abnorme Haarwirbel, Hautveränderungen (z. B. trockene Haut oder hypopigmentierte Flecken), weit auseinander stehende Brustwarzen, Adipositas, Mikropenis, Onychodystrophie und Krampfanfälle."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Nascimento","synonyms":["Síndrome de discapacidad intelectual-distrofia ungueal-crisis ligado al cromosoma X"],"definition":"La discapacidad intelectual ligada al X tipo Nascimento es un síndrome poco frecuente de discapacidad intelectual ligado al X caracterizado por discapacidad intelectual (con trastornos graves del habla), una apariencia mixedematosa, rasgos faciales dismórficos (que incluyen cabeza grande, sinofris, crestas supraorbitales prominentes, ojos almendrados y hundidos, orejas grandes, boca amplia con el labio inferior evertido y comisuras labiales inclinadas hacia abajo), línea posterior de implantación del cabello baja, cuello corto y ancho, marcado hirsutismo generalizado y remolinos capilares anómalos, cambios cutáneos (p.ej. piel seca o manchas hipopigmentadas), pezones ampliamente separados, obesidad, micropene, onicodistrofia y crisis."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Nascimento","synonyms":["Sindrome disabilità intellettiva-distrofia ungueale-crisi epilettiche legata all'X"],"definition":"La disabilità intellettiva legata all'X, tipo Nascimento è una malattia rara da disabilità intellettiva legata all'X, caratterizzata da disabilità intellettiva (con grave deficit del linguaggio), aspetto mixedematoso, dismorfismi facciali (testa grande, sinofria, creste sopraorbitali prominenti, occhi a mandorla infossati, orecchie grandi, bocca grande con labbro inferiore everso e angoli delle labbra rivolti verso il basso), attaccatura posteriore dei capelli bassa, collo corto e largo, marcato irsutismo generalizzato, vortici anomali dei capelli, alterazioni della cute (cute secca o macchie ipopigmentate), capezzoli iperdistanziati, obesità, micropene, onicodistrofia e crisi epilettiche."},"nl":{"name":"X-gebonden intellectuele achterstand, Nascimento-type","synonyms":["X-gebonden intellectuele achterstand - nageldystrofie - epileptische aanvallen-syndroom"],"definition":"X-gebonden intellectuele achterstand, Nascimento-type is een zeldzaam X-gebonden syndroom met intellectuele achterstand dat wordt gekarakteriseerd door intellectuele beperking (met ernstige spraakstoornis), een myxoedemateus uiterlijk, dysmorfe gelaatskenmerken (waaronder een groot hoofd, synophrys, opvallende supraorbitale rand, amandelvormige en diepliggende ogen, grote oren, een brede mond met naar buiten gekeerde onderlip en naar beneden wijzende mondhoeken), een lage achterste haarlijn, een korte en brede nek, duidelijk algemeen hirsutisme en abnormale haarwervels, huidveranderingen (e.g. droge huid of gehypopigmenteerde vlekken), ver uit elkaar staande tepels, obesitas, micropenis, onychodystrofie, en insulten."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Nascimento","synonyms":["Perturbação do desenvolvimento intelectual ligada ao X-distrofia das unhas-convulsões"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Nascimento","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X - dystrofia paznokci - napady padaczkowe"]},"cs":{"name":"X-vázaná mentální retardace, Nascimentové typ","synonyms":["Syndrom zahrnující X-vázanou mentální retardaci, dystrofii nehtů a záchvaty"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Насіменто","synonyms":["Х-зчеплений синдром розумової відсталості-нігтьової дистрофії-судом"],"definition":"X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures."},"zh":{"name":"Nascimento 型X连锁型智力障碍综合征","synonyms":["X连锁智力障碍-指甲营养不良-癫痫综合征"],"definition":"Nascimento型X连锁智力障碍一种罕见的X连锁智力障碍综合征，其特征是智力障碍(伴严重言语障碍)，粘液水肿性外观，面部特征变形(包括大头、连眉、眶上嵴突出、杏仁形深凹眼、大耳、宽嘴伴下唇外翻和唇角下降)、后发际线低、矮、颈宽、全身显著多毛、发旋异常、皮肤改变(如皮肤干燥或色素减退斑)、乳头间距宽、肥胖、小阴茎、甲营养不良和惊厥。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Nascimento tipi","synonyms":["X'e bağlı zihinsel yetersizlik-tırnak distrofisi-nöbetler sendromu"]}},"xrefs":[{"source":"OMIM","code":"300860","qualifier":"E","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":"MONDO","code":"0010461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512071","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":"UBE2A","name":"ubiquitin conjugating enzyme E2 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16909393[PMID]","hgnc":"12472","ensembl":"ENSG00000077721","omim":"312180","loci":["Xq24"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"20412111[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20412111[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-12","source":"24053514[PMID]_28611923[PMID]_20412111[PMID]_16909393[PMID]","terms":[{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007103","label":"Hypointensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010721","label":"Abnormal hair whorl","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005345","label":"Abnormal vena cava morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030311","label":"Lower extremity joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011913","label":"Lumbar hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007509","label":"Patchy hypo- and hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100838","label":"Recurrent cutaneous abscess formation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null}]}}