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GTR Home > Conditions/Phenotypes > Spondyloepimetaphyseal dysplasia, Genevieve type

Spondyloepimetaphyseal dysplasia, Genevieve type

Synonyms
NANS DEFICIENCY; SEMD Genevieve type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL-S-100, SAS, SEMDCG, SEMDG, NANS
    Summary: N-acetylneuraminate synthase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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