{"orpha":700333,"name":"Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700333/","orphanet_url":"https://www.orpha.net/en/disease/detail/700333","names":{"fr":{"name":"Syndrome d'hypotonie-troubles du langage sévères-retard cognitif sévère par déficit en UNC80"},"de":{"name":"Hypotonie-Sprachstörung-schwere kognitive Entwicklungsverzögerung-Syndrom, UNC80-assoziiert","synonyms":["IHPRF2","Infantile Hypotonie mit psychomotorischer Entwicklungsverzögerung und charakteristischem Gesichtsausdruck 2"]},"es":{"name":"Síndrome de hipotonía-trastorno del habla-retraso cognitivo grave por deficiencia de UNC80"},"it":{"name":"Sindrome ipotonia-deficit del linguaggio-grave ritardo cognitivo da deficit di UNC80"},"nl":{"name":"Hypotonie - spraakstoornis - ernstige cognitieve achterstand-syndroom door UNC80-deficiëntie"},"pt":{"name":"Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency"},"pl":{"name":"Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency"},"cs":{"name":"Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency"}},"xrefs":[{"source":"OMIM","code":"616801","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371364,"name":"Hypotonia-speech impairment-severe cognitive delay syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"UNC80","name":"unc-80 subunit of NALCN channel complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26708751[PMID]_26708753[PMID]_26545877[PMID]","hgnc":"26582","ensembl":"ENSG00000144406","omim":"612636","loci":["2q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}