Years Published 1997, 2001, 2003, 2012, 2015 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. [rarediseases.org]

Clinical Input Received From Physician Specialty Societies and Academic Medical Centers While the various physician specialty societies and academic medical centers may collaborate with and make recommendations during this process through the provision [bcidaho.com]

Deafness assocd w/an abnormality of the bony labyrinth (Mondini dysplasia or dilated [enlarged] vestibular aqueduct) Goiter not present at birth; develops in early puberty (40%) or adulthood (60%) Mondini dysplasia or dilated vestibular aqueduct can [ncbi.nlm.nih.gov]

SLC26A4 (50%) Goiter not present until early puberty or adulthood. [bcidaho.com]

Disease relevance of DFNB44 DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22 [1]. [wikigenes.org]

Willems CRC Press, ١٧‏/١٠‏/٢٠٠٣ - 406 من الصفحات Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. [books.google.com]

This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered. [hereditaryhearingloss.org]

Pollak et al. (2007) studied 233 Polish patients with hearing impairment and the GJB2 35delG mutation (121011.0005) on 1 allele. [catalog.coriell.org]

X-Linked Nonsyndromic Hearing Impairment The genes implicated in X-linked nonsyndromic hearing impairment and their clinical manifestations are summarized in Table 6. [ncbi.nlm.nih.gov]

Disease relevance of DFNB44 DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22 [1]. [wikigenes.org]

Willems CRC Press, ١٧‏/١٠‏/٢٠٠٣ - 406 من الصفحات Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. [books.google.com]

This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered. [hereditaryhearingloss.org]

Pollak et al. (2007) studied 233 Polish patients with hearing impairment and the GJB2 35delG mutation (121011.0005) on 1 allele. [catalog.coriell.org]

X-Linked Nonsyndromic Hearing Impairment The genes implicated in X-linked nonsyndromic hearing impairment and their clinical manifestations are summarized in Table 6. [ncbi.nlm.nih.gov]

1997, Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. ‎ [books.google.de]

We show that c.131G A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G A carriers originated. [miami.pure.elsevier.com]

Moreover, Kelley et al. (1998) identified the M34T allele in 3 of 192 control chromosomes, suggesting that it may be a polymorphism. [catalog.coriell.org]

Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp [email protected] Richard Smith, University of Iowa [email protected] If you want something to be included, or if you have other comments or suggestions [hereditaryhearingloss.org]

It has also been suggested that specific mutations should prompt additional action. [bcidaho.com]