U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked

Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked

Synonyms
HIJAZI-REIS SYNDROME

Summary

Hijazi-Reis syndrome (HIJRS) is an X-linked dominant disorder characterized by global developmental delay with hypotonia, motor delay, impaired intellectual development, and speech and language delay. Affected individuals also have dysmorphic facial features, gastrointestinal issues, and ocular anomalies. Rare patients have seizures (Hijazi et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HIJRS, NEDGFAX, SIIR, WEX9, p21, pp21, TCEAL1
    Summary: transcription elongation factor A like 1

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.