U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Synonyms
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE

Summary

Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS) is a severe autosomal recessive disorder characterized by impaired global development with hypotonia often precluding independent ambulation, profoundly impaired intellectual development with poor or absent language, mild microcephaly, and abnormal visual fixation. Patients also have gray sclerae and may have coarse facial features. Most affected individuals have seizures; some may have brain imaging abnormalities (summary by Shaheen et al., 2016 and Froukh et al., 2020). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 2610020J05Rik, DEG1, FKSG32, MRT55, NEDMIGS, PUS3
    Summary: pseudouridine synthase 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.