Disease #02539 (HMSNR;CMT-4G (neuropathy, hereditary motor and sensory, Russe type (HMSNR, CMT-4G)), OMIM:605285)

Official abbreviation HMSNR;CMT-4G
Name neuropathy, hereditary motor and sensory, Russe type (HMSNR, CMT-4G)
OMIM ID 605285
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HK1
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

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00219096 19536174-Fam PubMed: Hantke 2009 multi-generation family F;M yes Bulgaria gypsy (Kalderas) - 0 - - HMSNR;CMT-4G see paper; ... HK1 HK1, HKDC1 3 1 Johan den Dunnen
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