Belgian Genetic Tests database
Nasu-Hakola disease
| Name: |
Nasu-Hakola disease
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| Description: |
Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
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| ORPHAcode: |
2770
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| Synonyms: |
NHD
PLO-SL
PLOSL
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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