Term Name:	neurodevelopmental disorder with spastic paraplegia and microcephaly
Synonyms:	autosomal recessive mental retardation 49, glutamate pyruvate transaminase 2 deficiency, GPT2 deficiency, MRT49, NEDSPM
Definition:	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.
Ontology:	Human Disease [DOID:0070542]   ( DOID:0070542 )