<unk>  is marked by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschsprung disease, and moderate intellectual disability. It appears to be a distinct autosomal dominant syndrome with variable expressivity.
Ramos-Arroyo syndrome
Mungan syndrome
Kashani-Strom-Utley syndrome
Hartnup Disease
Grange syndrome
Meigs syndrome
Ogilvie syndrome
Kearns–Sayre syndrome