has characteristic has characteristic Moderate peroxisome biogenesis disorder 4B https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/7693 https://github.com/monarch-initiative/mondo/issues/9002 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/peroxisome_biogenesis_disorder_4b https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_3_2 PBD4B spinocerebellar ataxia autosomal recessive 3 Orphanet:95433 non-classic peroxisome biogenesis disorder UMLS:C3553937 MEDGEN:766851 Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. autosomal recessive spinocerebellar ataxia type 3 peroxisome biogenesis disorder type 4B MONDO:0013931 OMIM:614863 GARD:0015860 NCIT:C155755 spinocerebellar ataxia, autosomal recessive 3 autosomal recessive cerebellar ataxia - blindness - deafness SCAR3 DOID:0111612 DOID:0081433 autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome autosomal recessive cerebellar ataxia-blindness-deafness syndrome SCABD peroxisome biogenesis disorder 4B MESH:C537309 OMIM:271250 autosomal recessive syndromic cerebellar ataxia peroxisome biogenesis disorder due to PEX6 defect non-classic presentation