{"orpha":99742,"name":"Amish lethal microcephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare syndrome characterized by extreme microcephaly and early death, within the first year.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99742/","orphanet_url":"https://www.orpha.net/en/disease/detail/99742","names":{"fr":{"name":"Microcéphalie létale type Amish","definition":"La microcéphalie Amish létale est un syndrome très rare caractérisé par une microcéphalie extrême et un décès précoce, dans la première année de la vie."},"de":{"name":"Mikrozephalie, letale, Typ Amish","definition":"Der Amish-Typ von letaler Mikrozephalie ist ein sehr seltenes Syndrom mit extremer Mikrozephalie und frühem Tod im ersten Lebensjahr."},"es":{"name":"Microcefalia letal tipo Amish","definition":"Es un síndrome muy infrecuente caracterizado por microcefalia extrema y muerte prematura en el primer año."},"it":{"name":"Microcefalia letale, tipo Amish"},"nl":{"name":"Letale microcefalie, Amish-type","definition":"Een zeer zeldzaam syndroom, gekenmerkt door extreme microcefalie en vroeg overlijden, binnen het eerste levensjaar."},"pt":{"name":"Microcefalia, tipo Amish","definition":"A microcefalia letal Amish é um síndrome muito raro, caracterizado por microcefalia extrema e morte precoce, no primeiro ano."},"pl":{"name":"Śmiertelna mikrocefalia Amiszów"},"cs":{"name":"Letální mikrocefalie Amišů"},"uk":{"name":"Летальна мікроцефалія амішів","definition":"A very rare syndrome characterized by extreme microcephaly and early death, within the first year."},"zh":{"name":"阿米什致命性小头畸形","definition":"Amish致死性小头畸形症是一种非常罕见的综合症，以严重的小头畸形和在出生第一年内夭折为特征。"},"tr":{"name":"Amish letal mikrosefalisi"}},"xrefs":[{"source":"OMIM","code":"607196","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011790","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538247","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846648","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8606","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","classifications":[150,156]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SLC25A19","name":"solute carrier family 25 member 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301539[PMID]","hgnc":"14409","ensembl":"ENSG00000125454","omim":"606521","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":200.0,"area":"Specific population","status":"Validated","source":"12376931[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301539[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20301539[PMID]_20583149[PMID]","terms":[{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001992","label":"Organic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null}]}}