{"orpha":561854,"name":"FOXG1 syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FOXG1-related epileptic-dyskinetic encephalopathy"],"definition":"A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-561854/","orphanet_url":"https://www.orpha.net/en/disease/detail/561854","names":{"fr":{"name":"Syndrome FOXG1","synonyms":["Encéphalopathie épileptique-dyskinétique liée à FOXG1"],"definition":"Maladie neurologique génétique rare caractérisée par l'apparition précoce d'une microcéphalie, d'un sévère retard global de développement avec troubles cognitifs, d'une dyskinésie et de mouvements hyperkinétiques, d'une déficience visuelle, d'un comportement autistique, de stéréotypies, de troubles du sommeil, d'une épilepsie et de malformations cérébrales (telles qu'une hypogénésie du corps calleux, une anomalie du prosencéphale et un retard de myélinisation). Le développement du langage est minime ou absent, et la marche n'est pas acquise. Les patients porteurs d'une délétion plus importante en 14q12 présentent un phénotype plus sévère que ceux porteurs de mutations intragéniques ; ils présentent en plus une dysmorphie faciale et une agénésie du corps calleux."},"de":{"name":"FOXG1-Syndrom","synonyms":["Enzephalopathie, epileptisch-dyskinetische, FOXG1-assoziierte"],"definition":"Eine genetisch bedingte neurologische Störung, die durch frühkindliche Mikrozephalie, schwere globale Entwicklungsverzögerung und kognitive Beeinträchtigung, Dyskinesie und hyperkinetische Bewegungen, Sehstörungen, autistisches Verhalten, Stereotypien, Schlafstörungen, Epilepsie und zerebrale Fehlbildungen (wie Hypogenese des Corpus callosum, Vorderhirnanomalie und verzögerte Myelinisierung) gekennzeichnet ist. Die Sprachfähigkeit ist minimal oder nicht vorhanden, und Gehfähigkeit wird nicht erreicht. Patienten mit einer größeren 14q12-Mikrodeletion weisen einen schwereren Phänotyp auf als solche mit intragenischen Veränderungen. Zusätzliche Merkmale sind Gesichtsdysmorphien und Agenesie des Corpus callosum."},"es":{"name":"Síndrome FOXG1","synonyms":["Encefalopatía epiléptica-discinética asociada a FOXG1","Encefalopatía epiléptica-discinética asociada al gen FOXG1"],"definition":"Es un trastorno neurológico genético poco ftrecuente caracterizado por la aparición temprana de microcefalia, retraso grave del desarrollo global y afectación cognitiva, discinesia y movimientos hipercinéticos, discapacidad visual, comportamiento autista, estereotipias, trastornos del sueño, epilepsia y malformaciones cerebrales (como hipogénesis del cuerpo calloso, anomalía del prosencéfalo , y mielinización retardada). El habla es mínima o está ausente y no se logra la deambulación. Los pacientes con una microdeleción 14q12 mayor muestran un fenotipo más grave que aquellos con alteraciones intragénicas, además de dismorfia facial y agenesia del cuerpo calloso."},"it":{"name":"Sindrome FOXG1","synonyms":["Encefalopatia epilettica correlata a FOXG1","Encefalopatia epilettica discinetica correlata a FOXG1"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da microcefalia ad esordio precoce, grave ritardo dello sviluppo globale e deterioramento cognitivo, discinesia e movimenti ipercinetici, deficit visivo, tratti autistici, stereotipie, disturbi del sonno, epilessia e malformazioni cerebrali (ad es. ipogenesia del corpo calloso, anomalie del proencefalo e ritardo della mielinizzazione). Il linguaggio è limitato o assente, e i pazienti non sono in grado di deambulare. I pazienti con una microdelezione 14q12 più estesa presentano un fenotipo più grave rispetto a quelli con alterazioni intrageniche, con dismorfismi facciali e agenesia del corpo calloso."},"nl":{"name":"FOXG1-syndroom","synonyms":["FOXG1-gerelateerde epileptische-dyskinetische encefalopathie"],"definition":"Een zeldzame genetische neurologische aandoening, gekenmerkt door vroege aanvang van microcefalie, ernstige algehele ontwikkelingsachterstand en cognitieve functiestoornis, dyskinesie en hyperkinetische bewegingen, verlies van gezichtsvermogen, autistisch gedrag, stereotiep gedrag, slaapstoornis, epilepsie, en cerebrale malformaties (zoals hypogenesie van corpus callosum, anomalie van voorhersenen, en vertraagde myelinisatie). Spraak is minimaal of afwezig, en patiënten zijn niet in staat te stappen. Patiënten met een grotere 14q12-microdeletie vertonen een ernstiger fenotype dan diegenen met intragene wijzigingen, met bijkomstig faciale dysmorfie en agenesie van corpus callosum."},"pt":{"name":"Síndrome FOXG1","synonyms":["Encefalopatia epilética-discinésia FOXG1-relacionada"],"definition":"Distúrbio neurológico genético raro caracterizado por início precoce de microcefalia, atraso grave do desenvolvimento global e compromisso cognitivo, discinesia e movimentos hipercinéticos, compromisso visual, comportamentos do espectro autista, estereotipias, distúrbios do sono, epilepsia e malformações cerebrais (como hipogénese do corpo caloso, anomalia do prosencéfalo, e atraso na mielinização). A linguagem é mínima ou ausente e não é adquirida marcha. Os doentes com uma microdeleção 14q12 maior apresentam um fenótipo mais grave do que os casos com alterações intragénicas, acrescentando a presença de dismorfia facial e agenésia do corpo caloso."},"pl":{"name":"Zespół FOXG1","synonyms":["Encefalopatia padaczkowa związana z FOXG1"]},"cs":{"name":"Syndrom FOXG1","synonyms":["FOXG1-related epileptic-dyskinetic encephalopathy"]},"uk":{"name":"Синдром FOXG1","synonyms":["Епілептично-дискінетична енцефалопатія, повязана з FOXG1"],"definition":"A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum."},"zh":{"name":"FOXG1基因综合征","synonyms":["FOXG1基因相关癫痫性脑病"]},"tr":{"name":"FOXG1 sendromu","synonyms":["FOXG1-ilişkili epileptik ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"613454","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035383","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100040","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"35383","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150705","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12825","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":306765,"name":"Motor stereotypies","classifications":[156,181]},{"orpha":168778,"name":"Rare pervasive developmental disorder","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":261144,"name":"FOXG1 syndrome due to 14q12 microdeletion","type":"Clinical subtype"},{"orpha":598164,"name":"FOXG1 syndrome due to intragenic alteration","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FOXG1","name":"forkhead box G1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31454984[PMID]","hgnc":"3811","ensembl":"ENSG00000176165","omim":"164874","loci":["14q12"],"via":{"orpha":598164,"name":"FOXG1 syndrome due to intragenic alteration"}},{"symbol":"FOXG1","name":"forkhead box G1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23895774[PMID]","hgnc":"3811","ensembl":"ENSG00000176165","omim":"164874","loci":["14q12"],"via":{"orpha":261144,"name":"FOXG1 syndrome due to 14q12 microdeletion"}}],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-26","source":"31454984[PMID]_28661489[PMID]","terms":[{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000749","label":"Paroxysmal bursts of laughter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Very rare (<4-1%)","criteria":null}]}}