U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities

Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities

Summary

Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is a severe autosomal recessive disorder characterized by onset of these features in infancy. Affected individuals present with respiratory failure requiring intubation soon after birth; some die due to cardiorespiratory insufficiency. Those that survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features. Additional findings may include sensorineural hearing loss and ocular defects. Brain imaging shows variable abnormalities consistent with progressive neurodegeneration (Cali et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HSPC296, NDDRSB, MED11
    Summary: mediator complex subunit 11

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.