{"orpha":309282,"name":"Alpha-mannosidosis, infantile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Lysosomal alpha-D-mannosidase deficiency, infantile form"],"definition":null,"note":"This disease is described under Alpha-mannosidosis","url":"https://raremap.alftech.space/d/ORPHA-309282/","orphanet_url":"https://www.orpha.net/en/disease/detail/309282","names":{"fr":{"name":"Alpha-mannosidose infantile","synonyms":["Déficit en alpha-D-mannosidase lysosomale, forme infantile"]},"de":{"name":"Alpha-Mannosidose, infantile Form","synonyms":["Lysosomaler alpha-D-Mannosidase-Mangel, infantile Form"]},"es":{"name":"Alfa-manosidosis, forma infantil","synonyms":["Deficiencia de alfa-D-manosidasa lisosomal, forma infantil"]},"it":{"name":"Alfa-mannosidasi, forma infantile","synonyms":["Deficit di alfa-D-mannosidasi lisosomiale, forma infantile"]},"nl":{"name":"Alfa-mannosidose, infantiele vorm","synonyms":["Lysosomale alfa-D-mannosidasedeficiëntie, infantiele vorm"]},"pt":{"name":"Alfa-manosidose, forma da infância"},"pl":{"name":"Alfa-mannozydoza, postać niemowlęca","synonyms":["Niedobór lizosomalnej alfa-D-mannozydazy, postać niemowlęca"]},"cs":{"name":"Alfa-mannosidóza, infantilní forma","synonyms":["Deficit alfa-D-mannosidózy, infantilní forma"]},"uk":{"name":"Альфа-маннозидоз, інфантильна форма","synonyms":["Дефіцит лізосомальної альфа-D-манозидази, інфантильна форма"]},"zh":{"name":"婴儿型α-甘露糖苷贮积症","synonyms":["婴儿型溶酶体α-D-甘露糖苷贮积症"]},"tr":{"name":"Alfa-mannosidoz, çocukluk formu","synonyms":["Lizozomal alfa-D-mannosidaz eksikliği, infantil form"]}},"xrefs":[{"source":"OMIM","code":"248500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"906517648"},{"source":"MONDO","code":"0017732","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":61,"name":"Alpha-mannosidosis","classifications":[150,156,181,189,199]}],"children":[],"genes":[{"symbol":"MAN2B1","name":"mannosidase alpha class 2B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19958498[PMID]","hgnc":"6826","ensembl":"ENSG00000104774","omim":"609458","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-04","source":"27814608[PMID]_20301570[PMID]_31241255[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","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:0000943","label":"Dysostosis multiplex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Very frequent 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(79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002679","label":"Abnormality of the sella turcica","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430022","label":"Abnormality of the sphenoid sinus","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:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010665","label":"Bilateral coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes 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