{"orpha":93952,"name":"X-linked intellectual disability, Hedera type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MRXSH"],"definition":"X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93952/","orphanet_url":"https://www.orpha.net/en/disease/detail/93952","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Hedera","synonyms":["MRXSH"],"definition":"La déficience intellectuelle liée à l'X type Hedera est un syndrome rare de déficit intellectuel lié à l'X. Elle survient pendant la petite enfance et se manifeste par des signes de retard moteur et de la parole, des convulsions toniques cloniques généralisées, des chutes sans perte de connaissance (« <i>drop attack</i> »), et un déficit intellectuel léger à modéré. Les signes les plus rares incluent une scoliose, une ataxie (conduisant à un trouble progressif de la démarche) et des pieds plats. L'apparence physique est normale, aucune dysmorphie n'a été rapportée."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Hedera","synonyms":["MRXSH"],"definition":"Ein seltenes X-chromosomales Syndrom der Intelligenzminderung, das durch einen Beginn im Säuglingsalter mit verzögerten motorischen und sprachlichen Meilensteinen, generalisierten tonisch-klonischen Anfällen und Sturzattacken sowie einer leichten bis mittelschweren Intelligenzminderung gekennzeichnet ist. Weitere, weniger häufige Manifestationen sind Skoliose, Ataxie (die zu einer progressiven Gangstörung führt) und bilateraler Pes planovalgus. Das körperliche Erscheinungsbild ist normal, es werden keine dysmorphen Merkmale berichtet."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Hedera","definition":"La discapacidad intelectual ligada al X tipo Hedera es un síndrome poco frecuente de discapacidad intelectual ligada al X caracterizado por un inicio en la infancia de retraso en los hitos motores y del lenguaje, convulsiones tónico-clónicas generalizadas y ''drop attacks'', y discapacidad intelectual de leve a moderada. Otras manifestaciones menos comunes incluyen escoliosis, ataxia (que produce una alteración progresiva de la marcha) y pie plano-valgo bilateral. La apariencia física es normal, sin características dismórficas descritas."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Hedera","synonyms":["MRXSH"],"definition":"La disabilità intellettiva legata all'X, tipo Hedera è una malattia rara da disabilità intellettiva legata all'X, caratterizzata da ritardo dello sviluppo motorio e del linguaggio ad esordio infantile, crisi generalizzate tonico-cloniche, attacchi con caduta e disabilità intellettiva lieve o moderata. Altri segni clinici meno frequenti sono la scoliosi, l'atassia (che causa disturbi progressivi della deambulazione) e il piede piatto-valgo bilateralmente. L'aspetto fisico è normale e privo di dismorfismi."},"nl":{"name":"X-gebonden intellectuele achterstand, Hedera-type","synonyms":["MRXSH"],"definition":"X-gebonden intellectuele achterstand, Hedera-type is een zeldzaam X-gebonden syndroom met intellectuele achterstand dat wordt gekarakteriseerd door vertraagde mijlpalen van de motoriek en de spraak die aanvangen in de zuigelingentijd, gegeneraliseerde tonisch-clonische insulten en valaanvallen, en milde tot matige intellectuele beperking. Bijkomend zijn er minder voorkomende manifestaties waaronder scoliose, ataxie (die resulteert in progressieve gangstoornis), en bilaterale pes planovalgus (platvoet). Het fysieke uiterlijk is normaal en er werden geen dysmorfe kenmerken gerapporteerd."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Hedera","synonyms":["MRXSH"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Hedera","synonyms":["MRXSH"]},"cs":{"name":"X-vázaná mentální retardace, Hederův typ","synonyms":["MRXSH"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Хедера","synonyms":["MRXSH"],"definition":"X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported."},"zh":{"name":"X-连锁智力障碍， Hedera型","synonyms":["MRXSH"],"definition":"Hedera型X染色体连锁遗传智力障碍，是一种罕见的X染色体连锁遗传智力障碍综合征，其特征是婴儿期运动和语言发育延迟，全面性强直阵挛癫痫发作和失张力发作，以及轻度至中度智力障碍。另外，较少见的表现包括脊柱侧凸、共济失调（导致进行性步态紊乱）和双侧扁平足。外观正常，无畸形特征报道。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Hedera tipi","synonyms":["MRXSH"]}},"xrefs":[{"source":"OMIM","code":"300423","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010319","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564516","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845543","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2076,"name":"X-linked intellectual disability-epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP6AP2","name":"ATPase H+ transporting accessory protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15746149[PMID]","hgnc":"18305","ensembl":"ENSG00000182220","omim":"300556","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"26467484[PMID]_11782983[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26467484[PMID]_11782983[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-10","source":"26467484[PMID]_11782983[PMID]","terms":[{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007076","label":"Extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002600","label":"Hyporeflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012391","label":"Hyporeflexia of upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011812","label":"Agraphesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010527","label":"Astereognosia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001848","label":"Calcaneovalgus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Occasional (29-5%)","criteria":null}]}}