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metachromatic leukodystrophy due to saposin b deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description An atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis.
Mondo Term and Equivalent IDs
MONDO:0009590:  metachromatic leukodystrophy due to saposin b deficiency
GARD:0010674: 
MESH:C562609: 
SCTID:68390005: 
UMLS:C0268262: