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GTR Home > Conditions/Phenotypes > Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome

Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome

Synonyms
Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained an autosomal recessive short stature syndrome involving postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence. [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ILFS2, NAG, SOPH, NBAS
    Summary: NBAS subunit of NRZ tethering complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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