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Human Disease

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
Ontology
Human Disease   ( DOID:0070444 )
Relationships
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Genes Involved
Zebrafish Models