Version: 8.0.0
Date: Tue Jan 28 2025
spondyloepimetaphyseal dysplasia, Genevieve-type
DOID:0080576
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

spondyloepimetaphyseal dysplasia, Genevieve-type

Definition
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
Synonyms
None
Cross References
Parent Terms
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