U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures

Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures

Summary

Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures (DEDISB) is a neurodevelopmental disorder characterized by variably impaired skill acquisition apparent from infancy or early childhood. Affected individuals have predominant language delay with mild fine and gross motor deficits, although they usually are ambulatory by around 3 years of age. Most patients have mildly to moderately impaired intellectual development and behavioral abnormalities, including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures that may be refractory in some. More variable features include dysmorphic facial features, mild ocular anomalies, and nonspecific findings on brain imaging (Thomas et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARFGEP1, BIG1, DEDISB, P200, ARFGEF1
    Summary: ADP ribosylation factor guanine nucleotide exchange factor 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.