neurodevelopmental disorder with spastic paraplegia and microcephaly Disease Ontology Browser

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neurodevelopmental disorder with spastic paraplegia and microcephaly (DOID:0070542)
Alliance: disease page
Synonyms: autosomal recessive mental retardation 49; glutamate pyruvate transaminase 2 deficiency; GPT2 deficiency; MRT49; NEDSPM
Alt IDs: OMIM:616281, ORDO:477673, UMLS_CUI:C4225388, UMLS_CUI:C5567787
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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