{"orpha":324761,"name":"Microcephalic primordial dwarfism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-324761/","orphanet_url":"https://www.orpha.net/en/disease/detail/324761","names":{"fr":{"name":"Nanisme microcéphalique primordial"},"de":{"name":"Kleinwuchs, mikrozephaler primordialer"},"es":{"name":"Talla baja significativa primordial microcefálica","synonyms":["Enanismo primordial microcefálico"]},"it":{"name":"Nanismo primordiale microcefalico"},"nl":{"name":"Microcefale primordiale dwerggroei"},"pt":{"name":"Nanismo primordial microcefálico"},"pl":{"name":"Pierwotna karłowatość mikrocefaliczna"},"cs":{"name":"Mikrocefalické primordiální trpaslictví"},"uk":{"name":"Мікроцефальна первинна карликовість"},"zh":{"name":"小头畸形原发性侏儒"},"tr":{"name":"Mikrosefalik primordiyal cücelik"}},"xrefs":[{"source":"MONDO","code":"17950","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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[{"orpha":319671,"name":"Alazami syndrome","type":"Malformation syndrome"},{"orpha":658595,"name":"DNMT3A-related microcephalic dwarfism","type":"Malformation syndrome"},{"orpha":572761,"name":"DONSON-related microcephaly-short stature-limb abnormalities spectrum","type":"Malformation syndrome"},{"orpha":2554,"name":"Ear-patella-short stature syndrome","type":"Malformation syndrome"},{"orpha":468631,"name":"Microcephalic cortical malformations-short stature due to RTTN deficiency","type":"Malformation syndrome"},{"orpha":85172,"name":"Microcephalic osteodysplastic dysplasia, Saul-Wilson type","type":"Disease"},{"orpha":2637,"name":"Microcephalic osteodysplastic primordial dwarfism type II","type":"Malformation syndrome"},{"orpha":2636,"name":"Microcephalic osteodysplastic primordial dwarfism types I and III","type":"Malformation syndrome"},{"orpha":329228,"name":"Microcephalic primordial dwarfism due to ZNF335 deficiency","type":"Malformation syndrome"},{"orpha":718037,"name":"Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency","type":"Disease"},{"orpha":319675,"name":"Microcephalic primordial dwarfism, Dauber type","type":"Malformation syndrome"},{"orpha":2617,"name":"Microcephalic primordial dwarfism, Montreal type","type":"Malformation syndrome"},{"orpha":2643,"name":"Microcephalic primordial dwarfism, Toriello type","type":"Malformation syndrome"},{"orpha":436182,"name":"Microcephalic primordial dwarfism-insulin resistance syndrome","type":"Malformation syndrome"},{"orpha":808,"name":"Seckel syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}