DISEASES

Disease-gene associations mined from literature

Human genes for MEDNIK syndrome

MEDNIK syndrome [DOID:0060483]

A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.

Synonyms:  MEDNIK syndrome,  DOID:0060483,  MEDNIK disease,  MEDNIK disorder,  MEDNIK syndromes ...