{"orpha":728514,"name":"Pontocerebellar hypoplasia type 16","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MINPP1-related pontocerebellar hypoplasia","PCH16"],"definition":"A rare subtype of pontocerebellar hypoplasia (PCH) characterized by an almost complete absence of motor and cognitive development, microcephaly, epilepsy, spastic tetraplegia, vision impairment, extrapyramidal movements, and stereotypies. Brain imaging is distinct from other PCH subtypes and consists of mild-to-severe PCH, ventriculomegaly, thin corpus callosum and hypoplasia and T2-weighted hyperintensity of the basal ganglia and thalamus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-728514/","orphanet_url":"https://www.orpha.net/en/disease/detail/728514","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 16","synonyms":["Hypoplasie pontocérébelleuse associée à MINPP1","HPC16"]},"de":{"name":"Pontozerebelläre Hypoplasie Typ 16","synonyms":["PCH16","MINPP1-assoziierte pontozerebelläre Hypoplasie"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 16","synonyms":["HPC16","Hipoplasia pontocerebelosa asociada al gen MINPP1","PCH16"]},"it":{"name":"Ipoplasia pontocerebellare tipo 16","synonyms":["Ipoplasia pontocerebellare correlata a MINPP1","PCH16"]},"nl":{"name":"Pontocerebellaire hypoplasie type 16","synonyms":["PCH16","MINPP1-gerelateerde pontocerebellaire hypoplasie"]},"pt":{"name":"Pontocerebellar hypoplasia type 16"},"pl":{"name":"Pontocerebellar hypoplasia type 16","synonyms":["MINPP1-related pontocerebellar hypoplasia","PCH16"]},"cs":{"name":"Pontocerebellar hypoplasia type 16","synonyms":["MINPP1-related pontocerebellar hypoplasia","PCH16"]}},"xrefs":[{"source":"OMIM","code":"619527","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":"MINPP1","name":"multiple inositol-polyphosphate phosphatase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33168985[PMID]","hgnc":"7102","ensembl":"ENSG00000107789","omim":"605391","loci":["10q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}