ORPHA:83629

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Also called H-SMD, Hypomyelination-spondyloepimetaphyseal dysplasia syndrome, Leukoencephalopathy-SEMD syndrome, Leukoencephalopathy-metaphyseal chondrodysplasia syndrome

Body system

Bone diseases

Inheritance pattern

X-linked recessive

Typical age of onset

Childhood, Infancy

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:83629 is classified under "Bone diseases" in the Orphanet nomenclature.