MEDNIK syndrome

Term ID

DOID:0060483

Synonyms

• erythrokeratodermia variabilis 3
• erythrokeratodermia variabilis, Kamouraska type
• mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia

Definition

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. (2)

References

• OMIM:609313
• ORDO:171851

Ontology

Human Disease   ( DOID:0060483 )