Term Name: HELIX syndrome
Synonyms: hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia
Definition: A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32.
Ontology: Human Disease [DOID:0070746]   ( DOID:0070746 )

Relationships
is a type of: autosomal recessive disease syndrome