{"orpha":488642,"name":"TELO2-related intellectual disability-neurodevelopmental disorder","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["You-Hoover-Fong syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488642/","orphanet_url":"https://www.orpha.net/en/disease/detail/488642","names":{"fr":{"name":"Trouble neurologique du développement-déficience intellectuelle associée à TELO2","synonyms":["Syndrome de You-Hoover-Fong"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard de développement global, une déficience intellectuelle, une hypotonie infantile, une microcéphalie, des troubles du mouvement et de l'équilibre. Les autres signes cliniques, plus inconstants, sont une perte d'audition, une déficience visuelle d'origine corticale, des malformations des doigts et/ou des orteils, des malformations cardiaques congénitales, une cyphoscoliose, une dysmorphie faciale, des troubles du rythme circadien et des crises convulsives."},"de":{"name":"TELO2-assoziierte Intelligenzminderung mit neurologischer Entwicklungsstörung","synonyms":["You-Hoover-Fong-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit multiplen Anomalien, das durch eine globale Entwicklungsverzögerung und Intelligenzminderung, infantile Hypotonie, Mikrozephalie, Bewegungsstörungen und Gleichgewichtsstörungen gekennzeichnet ist. Weitere variable Erscheinungsformen sind u. a. Schwerhörigkeit, kortikale Sehstörungen, Anomalien der Finger und/oder Zehen, angeborene Herzanomalien, Kyphoskoliose, Gesichtsdysmorphien, abnorme Schlafmuster und Krampfanfälle."},"es":{"name":"Trastorno de discapacidad intelectual-neurodesarrollo asociado a TELO2","synonyms":["Síndrome de You-Hoover-Fong"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética poco frecuente caracterizado por retraso global del desarrollo y discapacidad intelectual, hipotonía del lactante, microcefalia, trastornos del movimiento y alteración del equilibrio. Otras manifestaciones más variables son hipoacusia, afectación visual cortical, anomalías de los dedos de manos y/o pies, anomalías cardíacas congénitas, cifoescoliosis, rasgos faciales dismórficos, alteración del patrón del sueño y crisis epilépticas, entre otras."},"it":{"name":"Disabilità intellettiva e alterato neurosviluppo correlati a TELO2","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, ipotonia infantile, microcefalia, anomalie del movimento e compromissione dell'equilibrio. Altri segni clinici più variabili sono la sordità, la compromissione della vista di origine corticale, le anomalie delle dita delle mani e/o dei piedi, le cardiopatie congenite, la cifoscoliosi, i dismorfismi facciali, i disturbi del sonno e le crisi epilettiche."},"nl":{"name":"TELO2-gerelateerde intellectuele achterstand - neurologische ontwikkelingsstoornis","synonyms":["Syndroom van You-Hoover-Fong"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door algehele ontwikkelingsachterstand en intellectuele achterstand, infantiele hypotonie, microcefalie, bewegingsstoornis, en evenwichtsstoornis. Meer variabele manifestaties zijn onder meer gehoorverlies, corticaal verlies van gezichtsvermogen, afwijkingen van vingers en/of tenen, congenitale hartanomalieën, kyfoscoliose, dysmorfe gelaatskenmerken, abnormaal slaappatroon, en insulten."},"pt":{"name":"Perturbação do desenvolvimento intelectual-perturbação do neurodesenvolvimento TELO2-relacionada"},"pl":{"name":"Zaburzenie neurorozwojowe z niepełnosprawnością intelektualną związane z TELO2","synonyms":["Zespół You'a i Hoover-Fong"]},"cs":{"name":"TELO2-vázaná mentální retardace s neurovývojovou poruchou","synonyms":["Youové - Hoover-Fongové syndrom","You - Hoover-Fongové syndrom"]},"uk":{"name":"Повязана з TELO2 інтелектуальна недостатність-порушення нейророзвитку","synonyms":["Синдром Ю-Гувера-Фонга"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others."},"zh":{"name":"TELO2相关智力障碍-精神发育迟缓","synonyms":["You-Hoover-Fong综合征"]},"tr":{"name":"TELO2 -ilişkili zihinsel yetersizlik-nörogelişimsel bozukluk","synonyms":["You-Hoover-Fong sendromu"]}},"xrefs":[{"source":"OMIM","code":"616954","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014848","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310778","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]},{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]}],"children":[],"genes":[{"symbol":"TELO2","name":"telomere maintenance 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27132593[PMID]","hgnc":"29099","ensembl":"ENSG00000100726","omim":"611140","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"27132593[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27132593[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-14","source":"28944240[PMID]_27132593[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004692","label":"4-5 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030962","label":"Abnormal morphology of the great vessels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","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:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008513","label":"Bilateral conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000081","label":"Duplicated collecting system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020045","label":"Esodeviation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001583","label":"Rotary nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}