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GTR Home > Conditions/Phenotypes > Sandestig-stefanova syndrome

Sandestig-stefanova syndrome

Summary

Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis (Sandestig et al., 2019). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KIAA0169, SANDSTEF, hNup188, NUP188
    Summary: nucleoporin 188

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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