has material basis in germline mutation in GPT2 syndromic intellectual disability glutamate pyruvate transaminase 2 deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/neurodevelopmental_disorder_with_spastic_paraplegia_and_microcephaly MEDGEN:906606 MONDO:0014567 DOID:0070542 postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome GARD:0017853 mental retardation, autosomal recessive type 49 neurodevelopmental disorder with microcephaly and spastic paraplegia UMLS:C4225388 OMIM:616281 GPT2 Deficiency mental retardation, autosomal recessive 49 NORD:91168 GPT2 deficiency glutamate pyruvate transaminase 2 deficiency Orphanet:477673 complex hereditary spastic paraplegia