peroxisome biogenesis disorder 4B
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.
MONDO:0020047
autosomal recessive syndromic cerebellar ataxia
is_a
MONDO:0100263
peroxisome biogenesis disorder due to PEX6 defect
is_a
PBD4B
exact
SCABD
exact
SCAR3
exact
autosomal recessive cerebellar ataxia - blindness - deafness
related
autosomal recessive cerebellar ataxia-blindness-deafness syndrome
exact
autosomal recessive spinocerebellar ataxia type 3
exact
autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
exact
non-classic peroxisome biogenesis disorder
broad
peroxisome biogenesis disorder 4B
exact
peroxisome biogenesis disorder type 4B
exact
spinocerebellar ataxia autosomal recessive 3
exact
spinocerebellar ataxia, autosomal recessive 3
exact
SPAC17A5.01