neurodevelopmental disorder with spastic paraplegia and microcephaly

An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in

An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.

Signs and symptoms

• Intellectual disability
• Absent speech
• Global developmental delay
• Secondary microcephaly
• Microcephaly
• Drooling
• Hypotonia
• Dysarthria
• Hypertonia
• Hyperreflexia

Also known as: GPT2 deficiency; MRT49; NEDSPM; autosomal recessive mental retardation 49; glutamate pyruvate transaminase 2 deficiency