has material basis in germline mutation in GRM1 autosomal recessive spinocerebellar ataxia 13 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_13 GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency UMLS:C3553816 spinocerebellar ataxia, autosomal recessive type 13 OMIM:614831 DOID:0080062 autosomal recessive spinocerebellar ataxia type 13 autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1 SCAR13 spinocerebellar ataxia, autosomal recessive 13 GARD:0017481 Orphanet:324262 MEDGEN:766730 MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome