MedGen

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. [from MONDO]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. [from MONDO]

Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene. [from MONDO]

Prolonged electroretinal response suppression-2 (PERRS2), also referred to as bradyopsia-2, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010). For a discussion of genetic heterogeneity of prolonged electroretinal response suppression (PERRS), see 608415. [from OMIM]

DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement (Yousaf et al., 2018). [from OMIM]

Any structural abnormality of the fundus of the eye. [from HPO]