{"orpha":85335,"name":"Fried syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85335/","orphanet_url":"https://www.orpha.net/en/disease/detail/85335","names":{"fr":{"name":"Syndrome de Fried","definition":"Le syndrome de Fried est un syndrome de déficit intellectuel lié au chromosome X qui est caractérisé par un retard psychomoteur, un déficit intellectuel, une hydrocéphalie et des anomalies faciales modérées."},"de":{"name":"Fried-Syndrom","definition":"Das Fried-Syndrom ist ein seltenes X-chromosomal-rezessives Syndrom mit Intelligenzminderung (XLMR), das durch verzögerte psychomotorische Entwicklung, intellektuelle Defizite, Hydrozephalus und leichte Gesichtsanomalien gekennzeichnet ist."},"es":{"name":"Síndrome de Fried","definition":"El síndrome de Fried es una forma de retraso mental ligado al cromosoma X, caracterizado por: retraso psicomotor, déficit intelectual, hidrocefalia y anomalías faciales moderadas."},"it":{"name":"Sindrome di Fried"},"nl":{"name":"Syndroom van Fried","definition":"Een zeldzaam syndroom van X-gebonden intellectuele achterstand (XLMR), gekenmerkt door psychomotorische achterstand, intellectuele achterstand, hydrocefalie, en milde faciale anomalieën."},"pt":{"name":"Síndrome Fried"},"pl":{"name":"Zespół Frieda"},"cs":{"name":"Friedův syndrom"},"uk":{"name":"Синдром Фріда","definition":"Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies."},"zh":{"name":"Fried综合征"},"tr":{"name":"Fried sendromu"}},"xrefs":[{"source":"OMIM","code":"304340","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019428","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305134","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":"AP1S2","name":"adaptor related protein complex 1 subunit sigma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17617514[PMID]","hgnc":"560","ensembl":"ENSG00000182287","omim":"300629","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5054319[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"5054319[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9222959[PMID]_18428203[PMID]","terms":[{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Occasional (29-5%)","criteria":null}]}}