| Metadata | |
|---|---|
| ID | DOID:0070444 |
| Name | neurodevelopmental disorder with language delay and seizures |
| 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/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |