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Peroxisome Biogenesis Disorder 4B (MONDO:0013931)

Open Trait in OLS

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.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:14943

Synonyms

non-classic peroxisome biogenesis disorder

PBD4B

SCABD

SCAR3

autosomal recessive cerebellar ataxia-blindness-deafness syndrome

autosomal recessive spinocerebellar ataxia type 3

autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome

peroxisome biogenesis disorder 4B

peroxisome biogenesis disorder type 4B

spinocerebellar ataxia autosomal recessive 3

spinocerebellar ataxia, autosomal recessive 3

autosomal recessive cerebellar ataxia - blindness - deafness

autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

spinocerebellar ataxia with blindness and deafness

Mapped terms

DOID:0081433

DOID:0111612

GARD:0015860

MEDGEN:766851

MESH:C537309

NCIT:C155755

OMIM:271250

OMIM:614863

Orphanet:95433

UMLS:C3553937

Child terms

Unknown children.