neurodevelopmental disorder with or without autism or seizures

Term ID

DOID:0061147

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. https://pubmed.ncbi.nlm.nih.gov/32341456/

References

• MIM:619239

Ontology

Human Disease   ( DOID:0061147 )