{"orpha":494344,"name":"RERE-related neurodevelopmental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494344/","orphanet_url":"https://www.orpha.net/en/disease/detail/494344","names":{"fr":{"name":"Trouble neurologique du développement associé à RERE","definition":"Anomalies congénitales multiples/syndrome dysmorphique, caractérisé par un retard global du développement, une déficience intellectuelle, une hypotonie, des crises d'épilepsie et un trouble du spectre autistique. Les signes inconstants associés sont les anomalies ophtalmologiques, les malformations cardiaques congénitales, les anomalies génito-urinaires et la dysmorphie crâniofaciale (y compris, bosse frontale, plis épicanthaux, oreilles implantées bas et orientées en arrière, narines antéversées et micrognathie). L'imagerie cérébrale peut mettre en évidence un amincissement du corps calleux, des anomalies de la substance blanche, une ventriculomégalie et une hypoplasie du vermis cérébelleux."},"de":{"name":"RERE-assoziierte neurologische Entwicklungsstörung","definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch globale Entwicklungsverzögerung, Intelligenzminderung, Hypotonie, Krampfanfälle und Autismus-Spektrum-Störungen gekennzeichnet ist. Zu den variablen Begleitmerkmalen gehören ophthalmologische Anomalien, angeborene Herzfehler, urogenitale Fehlbildungen und kraniofaziale Dysmorphien (einschließlich Balkonstirn, Epikanthusfalten, tief angesetzte, nach hinten gedrehte Ohren, antevertierte Nasenflügel und Mikrognathie). Die Bildgebung des Gehirns kann eine Ausdünnung des Corpus callosum, Anomalien der weißen Substanz, Ventrikulomegalie und einen kleinen zerebellären Vermis zeigen."},"es":{"name":"Síndrome de neurodesarrollo asociado al gen RERE","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por retraso global del desarrollo, discapacidad intelectual, hipotonía, crisis epilépticas y trastornos del espectro autista. Otras características variables asociadas incluyen anomalías oftálmicas, trastornos cardíacos congénitos, defectos genitourinarios y dismorfia craneofacial (incluyendo frente prominente, pliegues epicánticos, orejas de baja implantación y en rotación posterior, narinas antevertidas y micrognatia). La neuroimagen puede mostrar adelgazamiento del cuerpo calloso, alteraciones de la sustancia blanca, ventriculomegalia e hipoplasia del vermis cerebeloso."},"it":{"name":"Sindrome del neurosviluppo correlata a RERE","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, ipotonia, crisi epilettiche e disturbo dello spettro autistico. I pazienti possono presentare anche anomalie oculari, cardiopatie congenite, difetti urogenitali e dismorfismi craniofacciali (fronte bombata, epicanto, orecchie a basso impianto ruotate posteriormente, narici anteverse e micrognazia). Le neuroimmagini mostrano un assottigliamento del corpo calloso, anomalie della sostanza bianca, ventricolomegalia e ipoplasia del verme cerebellare."},"nl":{"name":"RERE-gerelateerd neurologische ontwikkelingssyndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, hypotonie, insulten, en autismespectrumstoornis. Variabele geassocieerde kenmerken zijn onder meer ooganomalieën, congenitale hartdefecten, urogenitale defecten, en craniofaciale dysmorfie (waaronder boller voorhoofd, epicanthusplooien, laagstaande en naar achteren gedraaide oren, anteversie van neusgaten, en micrognathie). Beeldvorming van hersenen toont mogelijk verdunning van corpus callosum, afwijkingen van witte stof, ventriculomegalie, en kleine vermis cerebelli."},"pt":{"name":"Síndrome do neurodesenvolvimento RERE-relacionada"},"pl":{"name":"Zespół nerwowo-rozwojowy związany z RERE"},"cs":{"name":"RERE-vázaný neurovývojový syndrom"},"uk":{"name":"Повязаний з RERE синдром порушення нейророзвитку","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis."},"zh":{"name":"RERE相关神经发育综合征"},"tr":{"name":"RERE -ilişkili nörogelişimsel sendrom"}},"xrefs":[{"source":"OMIM","code":"616975","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014857","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567477","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":"RERE","name":"arginine-glutamic acid dipeptide repeats","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27087320[PMID]","hgnc":"9965","ensembl":"ENSG00000142599","omim":"605226","loci":["1p36.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"27087320[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27087320[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-14","source":"30896913[PMID]_27087320[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031910","label":"Abnormal cranial nerve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012803","label":"Anisometropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000659","label":"Peters anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}