neurodevelopmental disorder with spastic paraplegia and microcephaly

Term ID

DOID:0070542

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. (2)

References

• MIM:616281
• ORDO:477673
• UMLS_CUI:C4225388
• UMLS_CUI:C5567787

Ontology

Human Disease   ( DOID:0070542 )