Version: 8.0.0
Date: Tue Jan 28 2025
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
DOID:0112291
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type

Definition
A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities.
Synonyms
None
Cross References
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Sources of Associations

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