{"orpha":659904,"name":"Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PRR12-related neuroocular syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by neurodevelopmental delay, intellectual disability, variable structural eye defects including anophthalmia, microphthalmia, coloboma, optic nerve and iris abnormalities. Hypotonia and heart defects are present in the majority of the patients. Additional variable clinical features may include growth failure, skeletal abnormalities, kidney anomalies, sleeping problems and behavioral disturbances such as autism and anxiety.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-659904/","orphanet_url":"https://www.orpha.net/en/disease/detail/659904","names":{"fr":{"name":"Syndrome d'anomalies congénitales multiples-retard neurodéveloppemental-anomalies oculaires","synonyms":["Syndrome neurooculaire lié à PRR12"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique, se manifestant par un retard neurodéveloppemental, une déficience intellectuelle et diverses malformations oculaires, notamment l'anophtalmie, la microphtalmie, le colobome, ainsi que des anomalies du nerf optique et de l'iris. Une hypotonie et des malformations cardiaques sont présentes chez la majorité des patients. D'autres manifestations cliniques variables peuvent inclure un retard de croissance, des anomalies squelettiques, des anomalies rénales, des troubles du sommeil et des troubles du comportement tels que l'autisme et l'anxiété."},"de":{"name":"Multiple kongenitale Anomalien-neurologische Entwicklungsverzögerung-Augenanomalie-Syndrom","synonyms":["PRR12-assoziiertes neurookuläres Syndrom"]},"es":{"name":"Síndrome de anomalías congénitas múltiples-retraso del neurodesarrollo-anomalías oculares","synonyms":["Síndrome neuroocular asociado a PRR12"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por retraso del neurodesarrollo, discapacidad intelectual y defectos estructurales oculares variables, incluyendo anoftalmia, microftalmia, coloboma y anomalías del nervio óptico y del iris. La mayoría de los pacientes presenta hipotonía y defectos cardíacos. Otras características clínicas variables pueden incluir retraso del crecimiento, anomalías esqueléticas, anomalías renales, alteraciones del sueño y trastornos de la conducta, como autismo y ansiedad."},"it":{"name":"Sindrome anomalie congenite multiple-ritardo dello sviluppo neurologico-anomalie oculari","synonyms":["Sindrome neuro-oculare correlata a PRR12"]},"nl":{"name":"Multipele congenitale anomalieën - neurologische ontwikkelingsachterstand - oogafwijkingen-syndroom","synonyms":["PRR12-gerelateerd neuro-oculair syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door neurologische ontwikkelingsachterstand, intellectuele achterstand, variabele structurele oogdefecten waaronder anoftalmie, microftalmie, coloboom, en afwijkingen van oogzenuw en iris. Hypotonie en hartdefecten zijn aanwezig bij de meerderheid van de patiënten. Mogelijke bijkomende variabele klinische kenmerken zijn groeifalen, skeletafwijkingen, nieranomalieën, slaapproblemen en gedragsstoornissen zoals autisme en angst."},"pt":{"name":"Síndrome de anomalias congénitas múltiplas-perturbação do neurodesenvolvimento-anomalias oculares","synonyms":["Síndrome neuro-ocular PRR12-relacionada"]},"pl":{"name":"Zespół z mnogimi wadami wrodzonymi, opóźnieniem neurorozwojowym i nieprawidłowościami oka","synonyms":["PRR12-related neuroocular syndrome"]},"cs":{"name":"Syndrom zahrnující mnohočetné vrozené anomálie, neurovývojové opoždění a abnormality očí","synonyms":["PRR12-related neuroocular syndrome"]},"uk":{"name":"Синдром множинних вроджених аномалій-затримки нейророзвитку-аномалій очей","synonyms":["Нейроокулярний синдром, повязаний з PRR12"]}},"xrefs":[{"source":"OMIM","code":"619539","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0971007","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925133","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":519272,"name":"Structural developmental eye defect","classifications":[147,189]},{"orpha":522536,"name":"Structural developmental eye defect of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"PRR12","name":"proline rich 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33824499[PMID]","hgnc":"29217","ensembl":"ENSG00000126464","omim":"616633","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"29556724[PMID]_33314030[PMID]_ 33824499[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29556724[PMID]_33314030[PMID]_ 33824499[PMID]_ORPHANET"}],"phenotypes":null}