autosomal recessive congenital nystagmus 8

Term ID

DOID:0061178

Synonyms

Definition

An autosomal recessive congenital nystagmus characterized by the presence of bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms and that has_material_basis_in homozygous mutation in the ROBO1 gene on chromosome 3p12.3. https://pubmed.ncbi.nlm.nih.gov/35348658/

References

• MIM:257400

Ontology

Human Disease   ( DOID:0061178 )