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DOID:0070542 - neurodevelopmental disorder with spastic paraplegia and microcephaly
Disease Ontology 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.
Synonyms: GPT2 deficiency, MRT49, NEDSPM, autosomal recessive mental retardation 49, glutamate pyruvate transaminase 2 deficiency,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a),
autosomal recessive intellectual developmental disorder (is_a)