{"orpha":163937,"name":"X-linked intellectual disability, Najm type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MICPCH","X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"],"definition":"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163937/","orphanet_url":"https://www.orpha.net/en/disease/detail/163937","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Najm","synonyms":["MICPCH","Syndrome de déficience intellectuelle liée à l'X-microcéphalie-hypoplasie pontocérébelleuse"],"definition":"Le déficit intellectuel lié à l'X type Najm est un syndrome de dysgénésie cérébelleuse rare caractérisé par des manifestations cliniques variables allant d'un déficit intellectuel modéré avec ou sans nystagmus congénital, à une atteinte cognitive sévère associée à une hypoplasie/atrophie pontique et cérébelleuse et des anomalies du développement cortical."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Najm","synonyms":["MICPCH-Syndrom","Syndrom der X-chromosomalen Intelligenzminderung mit Mikrozephalie und pontozerebellärer Hypoplasie"],"definition":"Der Typ Najm der X-chromosomalen Intelligenzminderung ist ein seltenes Kleinhirndysgenesie-Syndrom. Die klinischen Symptome reichen von leichter Intelligenzminderung mit oder ohne kongentitalen Nystagmus bis zu schwerer geistiger Behinderung mit zerebellärer und pontiner Hypoplasie/Atrophie und gestörter Entwicklung der Großhirnrinde."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Najm","synonyms":["Síndrome de discapacidad intelectual-microcefalia-hipoplasia pontocerebelosa ligado al cromosoma X"],"definition":"El déficit intelectual ligado al X tipo Najm es un síndrome de disgenesia cerebelosa poco frecuente que se caracteriza por manifestaciones clínicas variables desde un déficit intelectual leve con o sin nistagmo congénito, a un deterioro cognitivo grave asociado con hipoplasia/atrofia cerebelosa y pontina y anomalías del desarrollo cortical."},"it":{"name":"Deficit cognitivo legato all'X, tipo Najm","synonyms":["Deficit cognitivo legato all'X - microcefalia - ipoplasia pontocerebellare","MICPCH","Deficit cognitivo legato all'X-microcefalia-ipoplasia pontocerebellare"],"definition":"Il deficit cognitivo legato all'X tipo Najm è una sindrome rara da disgenesia cerebellare caratterizzata da segni clinici variabili, che comprendono il deficit cognitivo lieve con o senza nistagmo congenito, fino al deficit cognitivo grave associato a ipoplasia/atrofia cerebellare e pontina e anomalie dello sviluppo corticale."},"nl":{"name":"X-gebonden intellectuele achterstand, Najm-type","synonyms":["MICPCH","X-gebonden intellectuele achterstand - microcefalie - pontocerebellaire hypoplasie-syndroom"],"definition":"Najm-type X-gebonden intellectuele achterstand is een zeldzaam cerebellaire dysgenesiesyndroom dat gekenmerkt wordt door variabele klinische manifestaties gaande van milde intellectuele achterstand met of zonder aangeboren nystagmus, tot een ernstige cognitieve beperking geassocieerd met cerebellaire en pontiene hypoplasie/atrofie en afwijkingen van de corticale ontwikkeling."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Najm","synonyms":["MICPCH","Perturbação do desenvolvimento intelectual ligada ao X-microcefalia-hipoplasia pontocerebelosa"],"definition":"O défice intelectual ligado ao X tipo Najm é uma síndrome de disgenesia cerebelar rara caracterizada por manifestações clínicas variáveis que vão desde défice intelectual ligeiro, com ou sem nistagmo congénito, a um grave comprometimento cognitivo associado com hipoplasia/atrofia cerebelar e pontina e anomalias do desenvolvimento cortical."},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Najma","synonyms":["MICPCH","Niepełnosprawność intelektualna sprzężona z chromosomem X - małogłowie - hipoplazja mostu i móżdżku"]},"cs":{"name":"X-vázaná mentální retardace, Najmové typ","synonyms":["MICPCH","Syndrom zahrnující X-vázanou mentální retardaci, mikrocefalii a pontocerebelární hypoplázii"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Наджма","synonyms":["MICPCH","Х-зчеплений синдром розумової відсталості - мікроцефалії - гіпоплазії мозочка"],"definition":"Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development."},"zh":{"name":"脑桥和小脑发育不全的智力发育迟缓和小头畸形","synonyms":["X连锁智力障碍-小头畸形-桥小脑发育不全综合征"],"definition":"Najm型X连锁智力缺陷是一种罕见的小脑发育不全综合征，其临床症状多样，可为轻度智力缺陷伴或不伴先天性眼球震颤，也可为严重认知障碍伴小脑脑桥发育不良/萎缩和皮质发育异常。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Necm tipi","synonyms":["MICPCH","X'e bağlı zihinsel yetersizlik-mikrosefali-pontocerebellar hipoplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"300749","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1426958919"},{"source":"MONDO","code":"0010417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677903","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12669","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":728528,"name":"Pontocerebellar hypoplasia and related disorders","classifications":[147,156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"CASK","name":"calcium/calmodulin dependent serine protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19165920[PMID]","hgnc":"1497","ensembl":"ENSG00000147044","omim":"300172","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2024-05-31","source":"24278995[PMID]_37628707[PMID]_35670295[PMID]_28783747[PMID]_25886057[PMID]","terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034353","label":"Appendicular spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032794","label":"Myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null}]}}