Term Name: retinitis pigmentosa 84
Synonyms: RP84
Definition: A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2.
Ontology: Human Disease [DOID:0112141]   ( DOID:0112141 )

Relationships
is a type of: autosomal recessive disease retinitis pigmentosa