Disease-gene associations mined from literature

Human genes for infantile Refsum disease

Infantile Refsum disease [DOID:0050444]

A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.

Synonyms:  infantile Refsum disease,  DOID:0050444,  infantile Refsum disorder,  infantile Refsum syndrome,  infantile Refsum diseases ...

Linkouts:  OMIM #1 #2