Congenital cataracts, hearing loss, and neurodegeneration
An 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.
| Name | Development Level | Target Family |
|---|
| Name | Description |
|---|
TCRDv4.6.9
UniProt Disease
UniProt Disease