ORPHA:93352

Spondyloepimetaphyseal dysplasia, Shohat type

Also called SEMD, Shohat type

Body system

Bone diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Antenatal, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:93352 is classified under "Bone diseases" in the Orphanet nomenclature.