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Diseases List


Homocarnosinosis

Homocarnosinosis is a very rare metabolic disorder where a deficiency of homocarnosinase causes a harmful buildup of homcarnosine. Symptoms include mental retardation, retinal pigmentation and spastic diplegia.

Associated Genes

Gene Name Chromosome number BMRB EntriesPDB Entries
CNDP1 18 PDB Entries