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Pelizaeus–Merzbacher disease is the common name for hypomyelinating leukodystrophies (HLD). [6] There are at least 26 HLD variants cataloged by the National Institutes of Health National Library of Medicine [ 7 ] and the Online Mendelian Inheritance in Man (OMIM) compendium of human genes and genetic phenotypes.
This condition was first discovered in 1964 by E Zerbin-Rüdin et al. when they described (what they thought to be) a familial autosomal dominant variant of Pelizaeus-Merzbacher disease with onset in adulthood. [32]
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
(E75.2) Hypomyelinating leukodystrophy type 7 (4H syndrome) (E75.2) Krabbe disease (E75.2) Metachromatic leukodystrophy (E75.2) Pelizaeus–Merzbacher disease (E75.5) Cerebrotendineous xanthomatosis (G93.49) Leukoencephalopathy with vanishing white matter
Peeling skin syndrome ichthyosis; PEHO syndrome; Pelizaeus–Merzbacher brain sclerosis; Pelizaeus–Merzbacher disease, recessive, acute infantile; Pelizaeus–Merzbacher disease; Pelizaeus–Merzbacher leukodystrophy; Pellagra; Pellagra like syndrome; Pellagrophobia; Pelvic dysplasia arthrogryposis of lower limbs; Pelvic inflammatory disease ...
XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome ...
Pelizaeus–Merzbacher disease: SPG3A: 182600: ATL1: 14q22.1 Autosomal dominant Early ... MAST syndrome SPG22: 300523: SLC16A2: Xq13.2 X-linked recessive Early onset
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...