has material basis in germline mutation in GRID2 autosomal recessive spinocerebellar ataxia 18 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_18 OMIM:616204 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2 GARD:0017557 autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency spinocerebellar ataxia, autosomal recessive 18 SCAR18 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2 UMLS:C4015505 autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency Orphanet:363432 spinocerebellar ataxia, autosomal recessive type 18 MONDO:0014530 MEDGEN:863942 DOID:0080042 autosomal recessive spinocerebellar ataxia type 18 GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome