MedGen

DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012). [from OMIM]

Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features (Friedman et al., 1995). [from OMIM]

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

Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth). Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal. [from GeneReviews]

Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by Mutai et al., 2020). [from OMIM]

Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is an autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Some patients may have mild developmental delay or learning difficulties in childhood, but most can function independently. The onset of motor and cognitive decline in adulthood can be rapid and may result in early death. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy (summary by Scheidecker et al., 2019). [from OMIM]

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. [from MONDO]

Complete loss of hearing related to a sensorineural defect. [from HPO]