neurodevelopmental disorder with language delay and seizures

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 g

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.

Signs and symptoms

• Delayed speech and language development
• Seizure
• Global developmental delay
• Autistic behavior
• Attention deficit hyperactivity disorder
• Intellectual disability
• Hypothyroidism
• Cryptorchidism
• Hypothalamic hamartoma
• Thin corpus callosum