{"orpha":329228,"name":"Microcephalic primordial dwarfism due to ZNF335 deficiency","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephalic primordial dwarfism, Walsh type"],"definition":"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329228/","orphanet_url":"https://www.orpha.net/en/disease/detail/329228","names":{"fr":{"name":"Nanisme primordial microcéphalique par déficit en ZNF335","synonyms":["Nanisme primordial microcéphalique type Walsh"],"definition":"Le nanisme primordial microcéphalique par déficit en <i>ZNF335</i> est caractérisé par une micro-encéphalie majeure anténatale, gyration simplifiée, agénésie du corps calleux, absence de noyaux gris de la base (rare), une atrophie pontocérébelleuse et une atrophie cérébrale secondaire. Autres caractéristiques sont une cataracte congénitale, une atrésie des choanes, une arthrogrypose multiple et une tetraparésie spastique."},"de":{"name":"Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel","synonyms":["Mikrozephaler primordialer Kleinwuchs Typ Walsh"],"definition":"Der Mikrozephale primordiale Kleinwuchs aufgrund eines ZNF335-Mangels ist gekennzeichnet durch schwere pränatale Mikrozephalie, vereinfachte Gyrierung, Agenesie des Corpus callosum, Fehlen der Basalganglien (sehr selten), ponto-zerebelläre Atrophie und Beteiligung auch der weißen Substanz mit sekundärer Hirnatrophie. Weitere mögliche Symptome sind: Angeborene Katarakt, Choanalatresie, multiple Arthrogrypose und spastische Tetraparese."},"es":{"name":"Talla baja significativa primordial microcefálica por deficiencia de ZNF335","synonyms":["Enanismo primordial microcefálico por deficiencia de ZNF335","Enanismo primordial microcefálico tipo Walsh"],"definition":"El enanismo microcefálico primordial debido al déficit de ZNF335 se caracteriza por una microencefalia prenatal grave, simplificación de las circunvoluciones cerebrales, agenesia del cuerpo calloso, ausencia de los ganglios basales (muy poco frecuente), atrofia pontocerebelosa y afectación de la sustancia blanca con atrofia cerebral secundaria. Puede darse catarata congénita, atresia de coanas, artrogriposis múltiple y tetraparesia espástica."},"it":{"name":"Nanismo primordiale microcefalico da deficit di ZNF335","synonyms":["Nanismo primordiale microcefalico, tipo Walsh"],"definition":"Il nanismo primordiale microcefalico da deficit di ZNF335 è caratterizzato da grave microencefalia a esordio prenatale, semplificazione delle circonvoluzioni cerebrali, agenesia del corpo calloso, assenza dei gangli della base (molto raramente), atrofia pontocerebellare ed interessamento della sostanza bianca con atrofia cerebrale secondaria. Possono essere presenti cataratta congenita, atresia delle coane, artrogriposi multipla, tetraparesi spastica."},"nl":{"name":"Microcefale primordiale dwerggroei door ZNF335-deficiëntie","synonyms":["Microcefale primordiale dwerggroei, Walsh-type"],"definition":"Primordiale dwerggroei met microcefalie vanwege ZNF335-tekort wordt gekenmerkt door ernstige antenatale microëncefalie, vereenvoudigde hersenwindingen, agenesie van het corpus callosum, de afwezigheid van de basale ganglia (zeer zeldzaam), pontocerebellaire atrofie en betrokkenheid van de witte stof met secundaire cerebrale atrofie. Aangeboren cataract, choanale atresie, meerdere arthrogryposis en spastische tetraparese kunnen voorkomen."},"pt":{"name":"Nanismo primordial microcefálico por deficiência de ZNF335","synonyms":["Nanismo primordial microcefálico, tipo Walsh"]},"pl":{"name":"Pierwotna karłowatość mikrocefaliczna z powodu ZNF335","synonyms":["Pierwotna karłowatość mikrocefaliczna, typ Walsha"]},"cs":{"name":"Mikrocefalické primordiální trpaslictví způsobené ZNF335 deficitem","synonyms":["Mikrocefalické primordiální trpaslictví, Walshův typ"]},"uk":{"name":"Мікроцефальна первинна карликовість, зумовлена дефіцитом ZNF335","synonyms":["Мікроцефальна первинна карликовість, тип Уолша"],"definition":"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur."},"zh":{"name":"ZNF335基因缺陷所致原始性小头畸形侏儒症","synonyms":["Walsh型原始性小头畸形侏儒症"],"definition":"ZNF335缺乏所致小头畸形原发性侏儒症的特征是产前小头畸形严重、脑回简化、胼胝体发育不全、基底节缺失（非常罕见）、脑桥小脑萎缩以及继发性脑萎缩白质受累。可发生先天性白内障、后鼻孔闭锁、多发性关节粘连和痉挛性四肢轻瘫。"},"tr":{"name":"ZNF335 eksikliğine bağlı mikrosefalik primordiyal cücelik","synonyms":["Mikrosefalik primordiyal cücelik, Walsh tipi"]}},"xrefs":[{"source":"OMIM","code":"615095","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.D","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"ZNF335","name":"zinc finger protein 335","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23178126[PMID]","hgnc":"15807","ensembl":"ENSG00000198026","omim":"610827","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"23178126[PMID]_27540107[PMID]_29652087[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29652087[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-21","source":"23178126[PMID]","terms":[{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002060","label":"Abnormal cerebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012757","label":"Abnormal neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002538","label":"Abnormality of the cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009879","label":"Simplified gyral pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002472","label":"Small cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}