Disease - Huppke-Brendel syndrome
- DefinitionAn autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination.
- AcronymHPBDS
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Browse 1 entry- Acetyl-coenzyme A transporter 1 · Gene: SLC33A1 (ACATN, AT1) · Homo sapiens (Human) · 549 amino acids · Evidence at protein level · Annotation score: 5/5