U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly

Summary

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development. Affected individuals often have behavioral abnormalities and may have variable findings on brain imaging, such as thin corpus callosum. Laboratory studies show nuclear lobulation defects in a subset of neutrophils, indicating a pseudo-Pelger-Huet anomaly (see 169400) and suggesting defects in the integrity of the nuclear envelope, where TMEM147 localizes (Thomas et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDFLPH, NIFIE14, TMEM147
    Summary: transmembrane protein 147

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.