{"orpha":699835,"name":"Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ZBTB11-related neurodevelopmental disorder"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to profound intellectual disability, language and motor delays, bilateral congential/early-onset cataracts, combined malonic and methylmalonic aciduria and microcephaly. Movement disorders including ataxia, orofacial and limb dystonia, myoclonus and tremor have also been reported in the majority of the patients. Some patients may also present with facial dysmorphism including long face, hypertelorism and maxillary hyperplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-699835/","orphanet_url":"https://www.orpha.net/en/disease/detail/699835","names":{"fr":{"name":"Syndrome de cataracte-acidémie combinée malonique et méthylmalonique-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à ZBTB11"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une déficience intellectuelle légère à profonde, un retard de langage et de développement moteur, une cataracte congénitale bilatérale ou d'apparition précoce, une acidémie combinée malonique et méthylmalonique, ainsi qu'une microcéphalie. Des troubles moteurs, notamment une ataxie, une dystonie orofaciale et des membres, une myoclonie et des tremblements, ont également été rapportés chez la majorité des patients. Certains d'entre eux peuvent également présenter une dysmorphie faciale, notamment un visage allongé, un hypertélorisme et une hyperplasie maxillaire."},"de":{"name":"Katarakt-Kombinierte Malon- und Methylmalonsäureurie-Intelligenzminderung-Syndrom","synonyms":["Neurologische Entwicklungsstörung, ZBTB11-assoziierte"]},"es":{"name":"Síndrome de cataratas-aciduria malónica y metilmalónica combinada-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a ZBTB11"]},"it":{"name":"Sindrome cataratta-aciduria malonica e metilmalonica combinata-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a ZBTB11"]},"nl":{"name":"Cataract - gecombineerde malon- en methylmalonacidurie - intellectuele achterstand-syndroom","synonyms":["ZBTB11-gerelateerde neurologische ontwikkelingsstroonis"]},"pt":{"name":"Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome"},"pl":{"name":"Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome","synonyms":["ZBTB11-related neurodevelopmental disorder"]},"cs":{"name":"Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome","synonyms":["ZBTB11-related neurodevelopmental disorder"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","classifications":[150,156]},{"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":98641,"name":"Syndromic cataract","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}