neurodevelopmental disorder with language delay and seizures

Term ID

DOID:0070444

Synonyms

Definition

An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/35240055/

References

• OMIM:619908

Ontology

Human Disease   ( DOID:0070444 )