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Metadata
ID	DOID:0061147
Name	neurodevelopmental disorder with or without autism or seizures
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/
Xrefs	MIM:619239
Parent Relationships	is_a syndrome is_a autosomal dominant intellectual developmental disorder
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance disease has basis in some symptom