glutamate pyruvate transaminase 2 deficiency
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015150
complex hereditary spastic paraplegia
is_a
GPT2 Deficiency
exact
GPT2 deficiency
exact
glutamate pyruvate transaminase 2 deficiency
exact
mental retardation, autosomal recessive 49
exact
mental retardation, autosomal recessive type 49
exact
neurodevelopmental disorder with microcephaly and spastic paraplegia
exact
postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
exact
SPBC582.08