{"orpha":728521,"name":"Pontocerebellar hypoplasia type 17","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH17","PRDM13-related pontocerebellar hypoplasia"],"definition":"A rare subtype of pontocerebellar hypoplasia characterized by global developmental delay, motor impairment, axial hypotonia and distal hypotonia as well as severe brainstem dysfunctions (feeding and respiratory difficulties, central apnea, bradycardia). Other variable clinical features can include ophtalmological, cardiac and gastrointestinal anomalies, facial dysmorphism and epilepsy. This subtype is associated with perinatal lethality. Brain imaging usually shows cerebellar hypoplasia together with brainstem hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-728521/","orphanet_url":"https://www.orpha.net/en/disease/detail/728521","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 17","synonyms":["HPC17","Hypoplasie pontocérébelleuse associée à PRDM13"]},"de":{"name":"Pontozerebelläre Hypoplasie Typ 17","synonyms":["PCH17","PRDM13-assoziierte pontozerebelläre Hypoplasie"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 17","synonyms":["HPC17","Hipoplasia pontocerebelosa asociada al gen PRDM13","PCH17"]},"it":{"name":"Ipoplasia pontocerebellare tipo 17","synonyms":["PCH17","Ipoplasia pontocerebellare correlata a PRDM13"]},"nl":{"name":"Pontocerebellaire hypoplasie type 17","synonyms":["PCH17","PRDM13-gerelateerde pontocerebellaire hypoplasie"]},"pt":{"name":"Pontocerebellar hypoplasia type 17"},"pl":{"name":"Pontocerebellar hypoplasia type 17","synonyms":["PCH17","PRDM13-related pontocerebellar hypoplasia"]},"cs":{"name":"Pontocerebellar hypoplasia type 17","synonyms":["PCH17","PRDM13-related pontocerebellar hypoplasia"]}},"xrefs":[{"source":"OMIM","code":"619909","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PRDM13","name":"PR/SET domain 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35390279[PMID]","hgnc":"13998","ensembl":"ENSG00000112238","omim":"616741","loci":["6q16.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}