{"orpha":698085,"name":"Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TMEM147-related neurodevelopmental disorder"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, severe language delay/absence of language and impaired motor skills. All affected individuals present with dysmorphic features including coarse facies, prominent forehead, board depressed nasal root, long smooth philtrum, tented mouth, and low-set ears. Behavioral problems including tendency of self-injury, hyperactivity, aggressivity, and outbursts of anger are reported in the majority of the patients. Defects in nuclear lobulation, reminiscent of Pelger-Huët anomaly are frequently detected in cytological examinations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-698085/","orphanet_url":"https://www.orpha.net/en/disease/detail/698085","names":{"fr":{"name":"Syndrome de retard global de développement-déficience intellectuelle-dysmorphie faciale-anomalie pseudo-Pelger-Huët","synonyms":["Trouble du neurodéveloppement associé à TMEM147"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard global de développement, une déficience intellectuelle, un retard sévère ou une absence totale de langage, ainsi que des troubles de la motricité. Tous les patients atteints présentent une dysmorphie de type visage grossier, front proéminent, pont nasal déprimé, philtrum long et lisse, bouche en forme de tente et oreilles d'implantation basse. Des troubles du comportement, notamment une tendance à l'automutilation, une hyperactivité, une agressivité et des accès de colère, sont rapportés chez la majorité des patients. Des anomalies de la lobulation du noyau, rappelant l'anomalie de Pelger-Huët, sont fréquemment mis en évidence à l'examen cytologique."},"de":{"name":"Globale Entwicklungsverzögerung-Intelligenzminderung-Gesichtsdysmorphie-Pseudo-Pelger-Huët-Anomalie-Syndrom","synonyms":["NEDFLPH","Neurologische Entwicklungsstörung mit Gesichtsdysmorphien, fehlender Sprache und pseudo-Pelger-Huët-Anomalie","Neurologische Entwicklungsstörung, TMEM147-assoziierte"]},"es":{"name":"Síndrome de retraso global del desarrollo-discapacidad intelectual-dismorfia facial-pseudoanomalía de Pelger-Huët","synonyms":["Trastorno del neurodesarrollo asociado a TMEM147"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-disabilità intellettiva-dismorfismi facciali -anomalia pseudo-Pelger-Huët","synonyms":["Malattia del neurosviluppo correlata a TMEM147"]},"nl":{"name":"Algehele ontwikkelingsachterstand - intellectuele achterstand - faciale dysmorfie - pseudo-anomalie van Pelger-Huët-syndroom","synonyms":["TMEM147-gerelateerde neurologische ontwikkelingsstroonis"]},"pt":{"name":"Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome"},"pl":{"name":"Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome","synonyms":["TMEM147-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome","synonyms":["TMEM147-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"620075","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","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":"TMEM147","name":"transmembrane protein 147","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36044892[PMID]","hgnc":"30414","ensembl":"ENSG00000105677","omim":"613585","loci":["19q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"36044892[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36044892[PMID]_ORPHANET"}],"phenotypes":null}