{"orpha":363528,"name":"Intellectual disability-strabismus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363528/","orphanet_url":"https://www.orpha.net/en/disease/detail/363528","names":{"fr":{"name":"Syndrome de déficience intellectuelle-strabisme","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle modérée à sévère et une ésotropie. D'autres caractéristiques associées peuvent inclure un retard de croissance (insuffisance pondérale, retard de croissance, petite taille), une microcéphalie, une baisse du tonus musculaire (hypotonie, spasticité), une épilepsie, des troubles du comportement (hyperactivité, agressivité) et/ou des anomalies de la morphologie du cerveau, y compris un kyste arachnoïdien, une atrophie cérébrale, une ventriculomégalie légère, des anomalies de la myélinisation du SNC ou une agénésie du corps calleux."},"de":{"name":"Intelligenzminderung-Strabismus-Syndrom"},"es":{"name":"Síndrome de discapacidad intelectual-estrabismo","definition":"Es un trastorno de discapacidad intelectual sindrómico, genético y poco frecuente, caracterizado por discapacidad intelectual de moderada a grave y esotropía. Otras características asociadas pueden incluir falta de crecimiento (bajo peso, fallo de medro, talla baja), microcefalia, anomalías del tono (hipotonía, espasticidad), epilepsia, problemas conductuales (hiperactividad, agresividad) y/o morfología cerebral anómala, incluyendo quiste aracnoideo, atrofia cerebral, discreta ventriculomegalia, mielinización anómala del SNC o agenesia del cuerpo calloso."},"it":{"name":"Sindrome deficit cognitivo-strabismo","definition":"La sindrome che associa la disabilità intellettiva e lo strabismo è una malattia genetica rara da disabilità intellettiva, caratterizzata da disabilità intellettiva moderata-grave ed esotropia. Altri segni clinici sono il ritardo della crescita (scarso peso, ritardo dello sviluppo, bassa statura), la microcefalia, le anomalie del tono (ipotonia, spasticità), l'epilessia, i problemi comportamentali (iperattività, aggressività) e/o le anomalie morfologiche del cervello (cisti aracnoidee, atrofia cerebrale, ventricolomegalia lieve, anomalie della mielinizzazione del SNC o agenesia del corpo calloso)."},"nl":{"name":"Intellectuele achterstand - strabisme-syndroom","definition":"Intellectuele achterstand - strabisme-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door matige tot ernstige intellectuele achterstand en esotropie. Andere kenmerken die kunnen geassocieerd zijn, zijn onder meer groeifalen (ondergewicht, groeiachterstand, kleine gestalte), microcefalie, afwijkingen van de tonus (hypotonie, spasticiteit), epilepsie, gedragsproblemen (hyperactiviteit, agressiviteit), en/of abnormale morfologie van de hersenen, waaronder arachnoidale cysten, cerebrale atrofie, milde ventriculomegalie, abnormale myelinisatie van het CZS of agenesie van het corpus callosum."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-estrabismo"},"pl":{"name":"Zespół niepełnosprawność intelektualna-zez"},"cs":{"name":"Syndrom zahrnující mentální retardaci a strabismus"},"uk":{"name":"Синдром косоокості з інтелектуальною недостатністю","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis."},"zh":{"name":"智力障碍-斜视综合征","definition":"智力障碍-斜视综合征是一种罕见的遗传性综合征候性智力障碍疾病，以中、重度智力障碍和内斜视为特征。其他相关特征包括生长障碍(体重不足、发育不良、身材矮小)、小头畸形、肌张力异常(肌张力减退、痉挛)、癫痫、行为问题(多动、攻击性)和/或脑形态异常，包括蛛网膜囊肿、脑萎缩、轻度脑室增大、中枢神经系统髓鞘异常或胼胝体发育不全。"},"tr":{"name":"Zihinsel yetersizlik-şaşılık sendromu"}},"xrefs":[{"source":"OMIM","code":"615286","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H50.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"ADAT3","name":"adenosine deaminase tRNA specific 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23620220[PMID]","hgnc":"25151","ensembl":"ENSG00000213638","omim":"615302","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"23620220[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-08","source":"26842963[PMID]_23620220[PMID]_31687266[PMID]","terms":[{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007162","label":"Diffuse demyelination of the cerebral white matter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012408","label":"Medullary nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000418","label":"Narrow nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005879","label":"Congenital finger flexion contractures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very rare (<4-1%)","criteria":null}]}}