{"orpha":647799,"name":"MYT1L-related developmental delay-intellectual disability-obesity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MYT1L-associated neurodevelopmental disorder"],"definition":"A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions), non-specific magnetic resonance imaging (brain MRI) abnormalities, ophthalmologic abnormalities, epilepsy, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-647799/","orphanet_url":"https://www.orpha.net/en/disease/detail/647799","names":{"fr":{"name":"Syndrome de retard développemental-déficience intellectuelle-obésité associé à MYT1L","synonyms":["Trouble neurodéveloppemental associé à MYT1L"],"definition":"Syndrome neurodéveloppemental rare caractérisé par un retard global de développement, une déficience intellectuelle de sévérité variable ou des troubles des apprentissages (dysphasie, dyspraxie, dyscalculie, dysgraphie), ainsi que des troubles du comportement (stéréotypies, troubles du spectre de l'autisme, impulsivité ou intolérance à la frustration, auto ou hétéro-agressivité). Les autres caractéristiques cliniques comprennent fréquemment une surcharge pondérale ou une obésité, des troubles du comportement alimentaire (notamment hyperphagie, tachyphagie, compulsions alimentaires obsessionnelles), des anomalies non spécifiques constatées à l'imagerie par résonance magnétique (IRM cérébrale), des troubles ophtalmologiques, une épilepsie, des troubles du sommeil et une dysmorphie non spécifique. Des anomalies endocriniennes sont rarement associées."},"de":{"name":"MYT1L-assoziierte neurologische Entwicklungsstörung-Intelligenzminderung-Adipositas-Syndrom","synonyms":["MYT1L-assoziiertes Prader-Willi-ähnliches Syndrom","Neurologische Entwicklungsstörung, MYT1L-assoziierte"],"definition":"Ein seltene neurologische Entwicklungsstörung, die durch eine globale Entwicklungsverzögerung, Intelligenzminderung unterschiedlichen Schweregrades oder Lernschwierigkeiten (z. B. Dysphasie, Dyspraxie, Dyskalkulie, Dysgraphie) und Verhaltensstörungen (Stereotypien, Autismus-Spektrum-Störung, Impulsivität oder Intoleranz gegenüber Frustration, Selbst- oder Fremdaggression) gekennzeichnet ist. Zu den weiteren klinischen Merkmalen gehören Gewichtsstörungen (Übergewicht/Adipositas) und Störungen des Essverhaltens (einschließlich Hyperphagie, Tachyphagie, zwanghaftes Essen), unspezifische Anomalien in der Magnetresonanztomographie (MRT) des Gehirns, ophthalmologische Anomalien, Epilepsie, Schlafstörungen und unspezifische Dysmorphien. Endokrine Anomalien sind selten assoziiert."},"es":{"name":"Síndrome de retraso del desarrollo-discapacidad intelectual-obesidad asociado a MYT1L","synonyms":["Trastorno del neurodesarrollo asociado a MYT1L"],"definition":"Es un síndrome del neurodesarrollo poco frecuente caracterizado por retraso global del desarrollo, discapacidad intelectual de gravedad variable o dificultades de aprendizaje (como disfasia, dispraxia, discalculia, disgrafía) y trastornos de conducta (estereotipias, trastorno del espectro autista, impulsividad o intolerancia a la frustración, auto/heteroagresividad). Las características clínicas adicionales incluyen trastornos nutricionales (sobrepeso/obesidad) y trastornos de la conducta alimentaria (incluyendo hiperfagia, taquifagia, compulsión obsesiva por comer), anomalías inespecíficas en la resonancia magnética (RM cerebral), anomalías oftalmológicas, epilepsia, trastornos del sueño y dismorfia inespecífica. Rara vez se asocian anomalías endocrinas."},"it":{"name":"Sindrome ritardo dello sviluppo-disabilità intellettiva-obesità correlata a MYT1L","synonyms":["Disturbo dello sviluppo neurologico associato al gene MYT1L"]},"nl":{"name":"MYT1L-gerelateerd ontwikkelingsachterstand - intellectuele achterstand - obesitas-syndroom","synonyms":["MYT1L-geassocieerde neurologische ontwikkelingsstoornis"],"definition":"Een zeldzaam neurologisch ontwikkelingssyndroom, gekenmerkt door algehele ontwikkelingsachterstand, intellectuele achterstand met variabele ernst of leermoeilijkheden (bijvoorbeeld dysfasie, dyspraxie, dyscalculie, dysgrafie) en gedragsstoornissen (stereotypieën, autismespectrumstoornis, impulsiviteit of intolerantie voor frustratie, zelf- of hetero-agressie). Bijkomende klinische kenmerken zijn onder meer gewichtsstoornissen (overgewicht/obesitas) en eetstoornissen (waaronder hyperfagie, tachyfagie, obsessief-compulsief eten), aspecifieke afwijkingen bij beeldvorming met magnetische resonantie (MRI van hersenen), oftalmologische afwijkingen, epilepsie, slaapstoornissen, en aspecifieke dysmorfie. Endocriene afwijkingen zijn zelden geassocieerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-obesidade MYT1L-relacionada","synonyms":["Doença do neurodesenvolvimento MYT1L-relacionada"],"definition":"Síndrome rara do neurodesenvolvimento caracterizada por atraso global do desenvolvimento, perturbação do desenvolvimento intelectual de gravidade variável ou dificuldades de aprendizagem (por exemplo, disfagia, dispraxia, discalculia, disgrafia) e distúrbios comportamentais (estereotipias, transtorno do espectro autista, impulsividade ou intolerância à frustração, auto ou heteroagressão). Características clínicas adicionais incluem distúrbios de peso (sobrepeso/obesidade) e distúrbios do comportamento alimentar (incluindo hiperfagia, taquifagia, compulsões alimentares obsessivas), anomalias não específicas na ressonância magnética (RM cerebral), anomalias oftalmológicas, epilepsia, distúrbios do sono e dismorfismo não específico. Anomalias endócrinas raramente estão associadas."},"pl":{"name":"Związany z MYT1L zespół opóźnienia rozwoju-niepełnosprawności intelektualnej-otyłości","synonyms":["MYT1L-associated neurodevelopmental disorder"],"definition":"Rzadki zespół neurorozwojowy charakteryzujący się opóźnieniem rozwoju, niepełnosprawnością intelektualną o różnym nasileniu i nieprawidłową masą ciała (nadwaga/otyłość i zaburzenia odżywiania, w tym hiperfagia, tachyfagia, impulsywność żywieniowa i uczucie ciągłego głodu). Dodatkowe cechy kliniczne obejmują trudności w uczeniu się (mogą być połączone z dysfazją, dyspraksją, dyskalkulią, dysgrafią), poważne opóźnienie mowy, zaburzenia behawioralne (stereotypie, impulsywność lub nietolerancja frustracji, autoagresja oraz agresja wobec innych, zaburzenia ze spektrum autyzmu) oraz niespecyficzną dysmorfię. Można wystąpić padaczka i nieprawidłowości narządu wzroku. Zaburzenia endokrynologiczne występują rzadko."},"cs":{"name":"Syndrom zahrnující vývojové opoždění, mentální retardaci a obezitu asociovaný s MYT1L","synonyms":["MYT1L-associated neurodevelopmental disorder"]},"uk":{"name":"MYT1L-повязаний синдром затримки розвитку-інтелектуальної недостатності-ожиріння","synonyms":["Синдром Прадера-Віллі, повязаний з MYT1L"],"definition":"A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions, epilepsy), non-specific magnetic resonance imaging (MRI) abnormalities, ophthalmologic abnormalities, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated."}},"xrefs":[{"source":"OMIM","code":"616521","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0957477","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816753","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"MYT1L","name":"myelin transcription factor 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34748075[PMID]","hgnc":"7623","ensembl":"ENSG00000186487","omim":"613084","loci":["2p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-09","source":"34748075[PMID]_33622623[PMID]","terms":[{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011443","label":"Abnormality of coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008071","label":"Maternal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032508","label":"Polyembolokoilamania","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000352","label":"Tachyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034977","label":"Abnormal pituitary stalk morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010952","label":"Mild fetal ventriculomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Very rare (<4-1%)","criteria":null}]}}