spastic tetraplegia, thin corpus callosum, and progressive microcephaly

An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or co

An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14.

Signs and symptoms

• Thin corpus callosum
• Absent speech
• Babinski sign
• Global developmental delay
• Spasticity
• Inability to walk
• Delayed CNS myelination
• Hypotonia
• Irritability
• Hyperactivity

Also known as: SPATCCM