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Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]
Pendred syndrome
Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not. [from GeneReviews]
Episodic ataxia type 2
Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). [from OMIM]
Usher syndrome type 1F
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. [from GeneReviews]
Usher syndrome type 1D
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011). [from OMIM]
Autosomal recessive nonsyndromic hearing loss 12
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. [from MONDO]
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+"). [from GeneReviews]
Usher syndrome type 1G
Autosomal recessive nonsyndromic hearing loss 2
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. [from MONDO]
Autosomal recessive nonsyndromic hearing loss 1B
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. [from MONDO]
Autosomal recessive nonsyndromic hearing loss 77
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. [from MONDO]
Usher syndrome type 2D
Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families. [from GeneReviews]
Autosomal recessive nonsyndromic hearing loss 7
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. [from MONDO]
Autosomal recessive nonsyndromic hearing loss 48
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 nonsyndromic hearing loss 67
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. [from MONDO]
Usher syndrome type 1J
Autosomal dominant nonsyndromic hearing loss 25
Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene. [from MONDO]
Autosomal recessive nonsyndromic hearing loss 63
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. [from MONDO]
Autosomal recessive nonsyndromic hearing loss 37
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. [from MONDO]
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