autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome https://www.malacards.org/card/autosomal_recessive_cerebellar_ataxia_pyramidal_signs_nystagmus_oculomotor_apraxia_syndrome_2 UMLS:C4706388 GARD:0017556 MEDGEN:1644588 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. MONDO:0018189 Orphanet:363429 inborn disorder of amino acid transport autosomal recessive metabolic cerebellar ataxia